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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-43450971-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43450971&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43450971,
"ref": "T",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000634258.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 72,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SZT2",
"gene_hgnc_id": 29040,
"hgvs_c": "c.*491T>A",
"hgvs_p": null,
"transcript": "NM_001365999.1",
"protein_id": "NP_001352928.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3432,
"cds_start": -4,
"cds_end": null,
"cds_length": 10299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14136,
"mane_select": "ENST00000634258.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 72,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SZT2",
"gene_hgnc_id": 29040,
"hgvs_c": "c.*491T>A",
"hgvs_p": null,
"transcript": "ENST00000634258.3",
"protein_id": "ENSP00000489255.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3432,
"cds_start": -4,
"cds_end": null,
"cds_length": 10299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14136,
"mane_select": "NM_001365999.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SZT2",
"gene_hgnc_id": 29040,
"hgvs_c": "n.2607T>A",
"hgvs_p": null,
"transcript": "ENST00000460536.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SZT2",
"gene_hgnc_id": 29040,
"hgvs_c": "n.4138T>A",
"hgvs_p": null,
"transcript": "ENST00000638263.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SZT2",
"gene_hgnc_id": 29040,
"hgvs_c": "n.7244T>A",
"hgvs_p": null,
"transcript": "ENST00000648058.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 71,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SZT2",
"gene_hgnc_id": 29040,
"hgvs_c": "c.*491T>A",
"hgvs_p": null,
"transcript": "NM_015284.4",
"protein_id": "NP_056099.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3375,
"cds_start": -4,
"cds_end": null,
"cds_length": 10128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 71,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SZT2",
"gene_hgnc_id": 29040,
"hgvs_c": "c.*491T>A",
"hgvs_p": null,
"transcript": "ENST00000562955.2",
"protein_id": "ENSP00000457168.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3375,
"cds_start": -4,
"cds_end": null,
"cds_length": 10128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYI",
"gene_hgnc_id": 26948,
"hgvs_c": "c.*48A>T",
"hgvs_p": null,
"transcript": "XM_006710937.4",
"protein_id": "XP_006711000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": -4,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYI",
"gene_hgnc_id": 26948,
"hgvs_c": "c.*48A>T",
"hgvs_p": null,
"transcript": "XM_047431340.1",
"protein_id": "XP_047287296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 264,
"cds_start": -4,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYI",
"gene_hgnc_id": 26948,
"hgvs_c": "c.*267A>T",
"hgvs_p": null,
"transcript": "NM_001190880.3",
"protein_id": "NP_001177809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1221,
"mane_select": "ENST00000372430.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYI",
"gene_hgnc_id": 26948,
"hgvs_c": "c.*267A>T",
"hgvs_p": null,
"transcript": "ENST00000372430.9",
"protein_id": "ENSP00000361507.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1221,
"mane_select": "NM_001190880.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYI",
"gene_hgnc_id": 26948,
"hgvs_c": "c.*339A>T",
"hgvs_p": null,
"transcript": "ENST00000372432.5",
"protein_id": "ENSP00000361509.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
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"cds_length": 744,
"cdna_start": null,
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"cdna_length": 1066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYI",
"gene_hgnc_id": 26948,
"hgvs_c": "c.*267A>T",
"hgvs_p": null,
"transcript": "NM_001330526.2",
"protein_id": "NP_001317455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": -4,
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"cds_length": 909,
"cdna_start": null,
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"cdna_length": 1296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYI",
"gene_hgnc_id": 26948,
"hgvs_c": "c.*267A>T",
"hgvs_p": null,
"transcript": "ENST00000372434.5",
"protein_id": "ENSP00000361511.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "HYI",
"gene_hgnc_id": 26948,
"hgvs_c": "c.*339A>T",
"hgvs_p": null,
"transcript": "NM_001243526.2",
"protein_id": "NP_001230455.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYI",
"gene_hgnc_id": 26948,
"hgvs_c": "c.*339A>T",
"hgvs_p": null,
"transcript": "ENST00000583037.5",
"protein_id": "ENSP00000461969.2",
"transcript_support_level": 5,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "HYI",
"gene_hgnc_id": 26948,
"hgvs_c": "c.*339A>T",
"hgvs_p": null,
"transcript": "NM_031207.6",
"protein_id": "NP_112484.3",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 247,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "HYI",
"gene_hgnc_id": 26948,
"hgvs_c": "c.*339A>T",
"hgvs_p": null,
"transcript": "ENST00000372433.5",
"protein_id": "ENSP00000361510.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 212,
"cds_start": -4,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
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"cdna_length": 796,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYI",
"gene_hgnc_id": 26948,
"hgvs_c": "c.*267A>T",
"hgvs_p": null,
"transcript": "ENST00000470662.5",
"protein_id": "ENSP00000428803.1",
"transcript_support_level": 3,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "HYI",
"gene_hgnc_id": 26948,
"hgvs_c": "c.*339A>T",
"hgvs_p": null,
"transcript": "ENST00000487366.5",
"protein_id": "ENSP00000428501.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "HYI",
"gene_hgnc_id": 26948,
"hgvs_c": "n.*189A>T",
"hgvs_p": null,
"transcript": "ENST00000372427.5",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYI",
"gene_hgnc_id": 26948,
"hgvs_c": "n.*182A>T",
"hgvs_p": null,
"transcript": "ENST00000483618.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SZT2",
"gene_hgnc_id": 29040,
"hgvs_c": "n.*63T>A",
"hgvs_p": null,
"transcript": "ENST00000640484.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 37,
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"gene_symbol": "SZT2",
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"transcript": "ENST00000649403.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 5296,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "HYI",
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"hgvs_c": "c.*339A>T",
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"transcript": "XM_047431342.1",
"protein_id": "XP_047287298.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": -4,
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"cds_length": 717,
"cdna_start": null,
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"cdna_length": 1176,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SZT2",
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"dbsnp": "rs6954",
"frequency_reference_population": 0.0000016380875,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 0.00000163809,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.304,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000634258.3",
"gene_symbol": "SZT2",
"hgnc_id": 29040,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.*491T>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XM_006710937.4",
"gene_symbol": "HYI",
"hgnc_id": 26948,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*48A>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}