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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: 8-119783548-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=119783548&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 119783548,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000378164.7",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.1945T>C",
"hgvs_p": "p.Trp649Arg",
"transcript": "NM_003184.4",
"protein_id": "NP_003175.2",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 1199,
"cds_start": 1945,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 2222,
"cdna_end": null,
"cdna_length": 5027,
"mane_select": "ENST00000378164.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.1945T>C",
"hgvs_p": "p.Trp649Arg",
"transcript": "ENST00000378164.7",
"protein_id": "ENSP00000367406.2",
"transcript_support_level": 1,
"aa_start": 649,
"aa_end": null,
"aa_length": 1199,
"cds_start": 1945,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 2222,
"cdna_end": null,
"cdna_length": 5027,
"mane_select": "NM_003184.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.1945T>C",
"hgvs_p": "p.Trp649Arg",
"transcript": "ENST00000686879.1",
"protein_id": "ENSP00000509206.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1945,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.1945T>C",
"hgvs_p": "p.Trp649Arg",
"transcript": "ENST00000685235.1",
"protein_id": "ENSP00000510174.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 1214,
"cds_start": 1945,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.1945T>C",
"hgvs_p": "p.Trp649Arg",
"transcript": "ENST00000688645.1",
"protein_id": "ENSP00000509978.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 1162,
"cds_start": 1945,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 4911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.1831T>C",
"hgvs_p": "p.Trp611Arg",
"transcript": "ENST00000523904.2",
"protein_id": "ENSP00000430832.2",
"transcript_support_level": 3,
"aa_start": 611,
"aa_end": null,
"aa_length": 1161,
"cds_start": 1831,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2101,
"cdna_end": null,
"cdna_length": 4887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.1945T>C",
"hgvs_p": "p.Trp649Arg",
"transcript": "ENST00000690144.1",
"protein_id": "ENSP00000510548.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 1160,
"cds_start": 1945,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 5377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.1945T>C",
"hgvs_p": null,
"transcript": "ENST00000685202.1",
"protein_id": "ENSP00000509214.1",
"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": 5187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1337T>C",
"hgvs_p": null,
"transcript": "ENST00000685503.1",
"protein_id": "ENSP00000509198.1",
"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": 5202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1817T>C",
"hgvs_p": null,
"transcript": "ENST00000685663.1",
"protein_id": "ENSP00000508988.1",
"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": 5237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*3412T>C",
"hgvs_p": null,
"transcript": "ENST00000685684.1",
"protein_id": "ENSP00000509441.1",
"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": 7061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1646T>C",
"hgvs_p": null,
"transcript": "ENST00000685824.1",
"protein_id": "ENSP00000510262.1",
"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": 4834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1663T>C",
"hgvs_p": null,
"transcript": "ENST00000685876.1",
"protein_id": "ENSP00000510493.1",
"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": 5090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1760T>C",
"hgvs_p": null,
"transcript": "ENST00000685993.1",
"protein_id": "ENSP00000510102.1",
"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,
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"cdna_length": 4946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*590T>C",
"hgvs_p": null,
"transcript": "ENST00000686098.1",
"protein_id": "ENSP00000509102.1",
"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": 4922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1364T>C",
"hgvs_p": null,
"transcript": "ENST00000688037.1",
"protein_id": "ENSP00000510169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*590T>C",
"hgvs_p": null,
"transcript": "ENST00000689164.1",
"protein_id": "ENSP00000508729.1",
"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": 5316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1663T>C",
"hgvs_p": null,
"transcript": "ENST00000689919.1",
"protein_id": "ENSP00000510768.1",
"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": 4965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1181T>C",
"hgvs_p": null,
"transcript": "ENST00000690808.1",
"protein_id": "ENSP00000509791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"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
},
{
"aa_ref": null,
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"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*357T>C",
"hgvs_p": null,
"transcript": "ENST00000690922.1",
"protein_id": "ENSP00000509498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1246T>C",
"hgvs_p": null,
"transcript": "ENST00000691847.1",
"protein_id": "ENSP00000509663.1",
"transcript_support_level": null,
"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": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1601T>C",
"hgvs_p": null,
"transcript": "ENST00000691880.1",
"protein_id": "ENSP00000508515.1",
"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": 4840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1646T>C",
"hgvs_p": null,
"transcript": "ENST00000692518.1",
"protein_id": "ENSP00000508959.1",
"transcript_support_level": null,
"aa_start": null,
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"clinvar_submissions_summary": "null",
"phenotype_combined": "Microcephaly-thin corpus callosum-intellectual disability syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}