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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: 2-182740377-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=182740377&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 182740377,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018981.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Asn356Asp",
"transcript": "NM_018981.4",
"protein_id": "NP_061854.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 793,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 20144,
"mane_select": "ENST00000264065.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018981.4"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Asn356Asp",
"transcript": "ENST00000264065.12",
"protein_id": "ENSP00000264065.6",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 793,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 20144,
"mane_select": "NM_018981.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264065.12"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.928A>G",
"hgvs_p": "p.Asn310Asp",
"transcript": "ENST00000616986.5",
"protein_id": "ENSP00000479930.1",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 747,
"cds_start": 928,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 20006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616986.5"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "n.*56A>G",
"hgvs_p": null,
"transcript": "ENST00000418559.6",
"protein_id": "ENSP00000389483.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 19607,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000418559.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "n.2211A>G",
"hgvs_p": null,
"transcript": "ENST00000491074.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 20962,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000491074.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "n.*56A>G",
"hgvs_p": null,
"transcript": "ENST00000418559.6",
"protein_id": "ENSP00000389483.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 19607,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000418559.6"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Asn356Asp",
"transcript": "ENST00000874159.1",
"protein_id": "ENSP00000544218.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 803,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874159.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Asn356Asp",
"transcript": "ENST00000874155.1",
"protein_id": "ENSP00000544214.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 793,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 6925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874155.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Asn356Asp",
"transcript": "ENST00000960778.1",
"protein_id": "ENSP00000630837.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 793,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 5751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960778.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Asn356Asp",
"transcript": "ENST00000960780.1",
"protein_id": "ENSP00000630839.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 793,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960780.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Asn356Asp",
"transcript": "ENST00000874156.1",
"protein_id": "ENSP00000544215.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 792,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 6304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874156.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Asn356Asp",
"transcript": "ENST00000680258.1",
"protein_id": "ENSP00000504932.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 773,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 20086,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680258.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Asn356Asp",
"transcript": "ENST00000874158.1",
"protein_id": "ENSP00000544217.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 772,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 4124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874158.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Asn335Asp",
"transcript": "ENST00000960779.1",
"protein_id": "ENSP00000630838.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 772,
"cds_start": 1003,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960779.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.991A>G",
"hgvs_p": "p.Asn331Asp",
"transcript": "ENST00000679884.1",
"protein_id": "ENSP00000506233.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 768,
"cds_start": 991,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 19812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679884.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Asn356Asp",
"transcript": "ENST00000874157.1",
"protein_id": "ENSP00000544216.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 758,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 4545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874157.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Asn356Asp",
"transcript": "ENST00000874160.1",
"protein_id": "ENSP00000544219.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 753,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 4028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874160.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.943A>G",
"hgvs_p": "p.Asn315Asp",
"transcript": "ENST00000960781.1",
"protein_id": "ENSP00000630840.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 752,
"cds_start": 943,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 2914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960781.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.928A>G",
"hgvs_p": "p.Asn310Asp",
"transcript": "NM_001271581.3",
"protein_id": "NP_001258510.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 747,
"cds_start": 928,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 20006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271581.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.928A>G",
"hgvs_p": "p.Asn310Asp",
"transcript": "ENST00000874161.1",
"protein_id": "ENSP00000544220.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 746,
"cds_start": 928,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874161.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.928A>G",
"hgvs_p": "p.Asn310Asp",
"transcript": "ENST00000929252.1",
"protein_id": "ENSP00000599311.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 727,
"cds_start": 928,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929252.1"
},
{
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.805+9270A>G",
"hgvs_p": null,
"transcript": "ENST00000680667.1",
"protein_id": "ENSP00000506452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 626,
"cds_start": null,
"cds_end": null,
"cds_length": 1881,
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{
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"3_prime_UTR_variant"
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},
{
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"canonical": false,
"protein_coding": true,
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"downstream_gene_variant"
],
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"gene_symbol": "DNAJC10",
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"transcript": "ENST00000537515.5",
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"biotype": "protein_coding",
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}
],
"gene_symbol": "DNAJC10",
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"dbsnp": "rs200062649",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.034195125102996826,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.0582,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.979,
"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": "NM_018981.4",
"gene_symbol": "DNAJC10",
"hgnc_id": 24637,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Asn356Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}