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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: 18-62281158-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=62281158&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 62281158,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000644646.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.3114+449A>C",
"hgvs_p": null,
"transcript": "NM_001346231.2",
"protein_id": "NP_001333160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1216,
"cds_start": -4,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8617,
"mane_select": "ENST00000644646.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.3114+449A>C",
"hgvs_p": null,
"transcript": "ENST00000644646.2",
"protein_id": "ENSP00000494314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1216,
"cds_start": -4,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8617,
"mane_select": "NM_001346231.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.3114+449A>C",
"hgvs_p": null,
"transcript": "ENST00000398130.6",
"protein_id": "ENSP00000381198.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1216,
"cds_start": -4,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.3216+449A>C",
"hgvs_p": null,
"transcript": "NM_001346229.2",
"protein_id": "NP_001333158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1250,
"cds_start": -4,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.3216+449A>C",
"hgvs_p": null,
"transcript": "ENST00000256858.10",
"protein_id": "ENSP00000256858.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1250,
"cds_start": -4,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.3138+449A>C",
"hgvs_p": null,
"transcript": "NM_001346230.2",
"protein_id": "NP_001333159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1224,
"cds_start": -4,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.3114+449A>C",
"hgvs_p": null,
"transcript": "NM_020854.4",
"protein_id": "NP_065905.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1216,
"cds_start": -4,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.3102+449A>C",
"hgvs_p": null,
"transcript": "NM_001346233.2",
"protein_id": "NP_001333162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1212,
"cds_start": -4,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.3114+449A>C",
"hgvs_p": null,
"transcript": "NM_001346234.2",
"protein_id": "NP_001333163.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1163,
"cds_start": -4,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.1377+449A>C",
"hgvs_p": null,
"transcript": "NM_001346235.2",
"protein_id": "NP_001333164.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": -4,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
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"cdna_length": 9253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "n.181+449A>C",
"hgvs_p": null,
"transcript": "ENST00000587198.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 4,
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"gene_symbol": "RELCH",
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"hgvs_c": "n.290+449A>C",
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"transcript": "ENST00000587764.5",
"protein_id": null,
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"aa_start": null,
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"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "n.4123+449A>C",
"hgvs_p": null,
"transcript": "NR_144403.2",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": true,
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],
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"gene_symbol": "RELCH",
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"transcript": "NR_144404.2",
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},
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],
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
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"intron_rank": 25,
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"gene_symbol": "RELCH",
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"hgvs_c": "n.3389+449A>C",
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},
{
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],
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},
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],
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"intron_rank": 28,
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"gene_symbol": "RELCH",
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"hgvs_c": "n.4164+449A>C",
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},
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 27,
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"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "n.3594+449A>C",
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"transcript": "NR_144409.2",
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},
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],
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"intron_rank": 25,
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},
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],
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},
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],
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"hgvs_c": "c.3138+449A>C",
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"transcript": "XM_011526111.3",
"protein_id": "XP_011524413.1",
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"biotype": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 25,
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"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.3138+449A>C",
"hgvs_p": null,
"transcript": "XM_011526112.3",
"protein_id": "XP_011524414.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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}