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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: 2-161862963-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=161862963&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 161862963,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000446997.6",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.667C>T",
"hgvs_p": "p.His223Tyr",
"transcript": "NM_001178015.2",
"protein_id": "NP_001171486.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 1118,
"cds_start": 667,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 5578,
"mane_select": "ENST00000446997.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.667C>T",
"hgvs_p": "p.His223Tyr",
"transcript": "ENST00000446997.6",
"protein_id": "ENSP00000393066.1",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 1118,
"cds_start": 667,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 5578,
"mane_select": "NM_001178015.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.667C>T",
"hgvs_p": "p.His223Tyr",
"transcript": "ENST00000415876.6",
"protein_id": "ENSP00000395797.2",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 1088,
"cds_start": 667,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 5578,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "n.904C>T",
"hgvs_p": null,
"transcript": "ENST00000461456.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1223,
"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": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "n.1183C>T",
"hgvs_p": null,
"transcript": "ENST00000493021.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.667C>T",
"hgvs_p": "p.His223Tyr",
"transcript": "NM_001354440.2",
"protein_id": "NP_001341369.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 1136,
"cds_start": 667,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.His235Tyr",
"transcript": "NM_001354460.2",
"protein_id": "NP_001341389.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 1130,
"cds_start": 703,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 5712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.His235Tyr",
"transcript": "NM_001354461.2",
"protein_id": "NP_001341390.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 1130,
"cds_start": 703,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 5848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.700C>T",
"hgvs_p": "p.His234Tyr",
"transcript": "NM_001354441.2",
"protein_id": "NP_001341370.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 1129,
"cds_start": 700,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 5714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.700C>T",
"hgvs_p": "p.His234Tyr",
"transcript": "NM_001354442.2",
"protein_id": "NP_001341371.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 1127,
"cds_start": 700,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.His235Tyr",
"transcript": "NM_001354443.2",
"protein_id": "NP_001341372.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 1118,
"cds_start": 703,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 5583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.667C>T",
"hgvs_p": "p.His223Tyr",
"transcript": "NM_001354444.2",
"protein_id": "NP_001341373.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 1117,
"cds_start": 667,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 5575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.700C>T",
"hgvs_p": "p.His234Tyr",
"transcript": "NM_001354445.2",
"protein_id": "NP_001341374.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 1117,
"cds_start": 700,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 5585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.667C>T",
"hgvs_p": "p.His223Tyr",
"transcript": "NM_001354446.2",
"protein_id": "NP_001341375.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
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"cds_start": 667,
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"cdna_start": 770,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.667C>T",
"hgvs_p": "p.His223Tyr",
"transcript": "ENST00000272716.9",
"protein_id": "ENSP00000272716.5",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 1106,
"cds_start": 667,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 3414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.His235Tyr",
"transcript": "NM_001354447.2",
"protein_id": "NP_001341376.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
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"cds_start": 703,
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"cdna_start": 1040,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.700C>T",
"hgvs_p": "p.His234Tyr",
"transcript": "NM_001178016.2",
"protein_id": "NP_001171487.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 1099,
"cds_start": 700,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 5624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.700C>T",
"hgvs_p": "p.His234Tyr",
"transcript": "ENST00000375514.9",
"protein_id": "ENSP00000364664.5",
"transcript_support_level": 2,
"aa_start": 234,
"aa_end": null,
"aa_length": 1099,
"cds_start": 700,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 5710,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.700C>T",
"hgvs_p": "p.His234Tyr",
"transcript": "NM_001354448.2",
"protein_id": "NP_001341377.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
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"cdna_start": 906,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.667C>T",
"hgvs_p": "p.His223Tyr",
"transcript": "NM_022058.4",
"protein_id": "NP_071341.2",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 1088,
"cds_start": 667,
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"cds_length": 3267,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 5488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.667C>T",
"hgvs_p": "p.His223Tyr",
"transcript": "NM_001354449.2",
"protein_id": "NP_001341378.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 1087,
"cds_start": 667,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 5485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.667C>T",
"hgvs_p": "p.His223Tyr",
"transcript": "NM_001354450.2",
"protein_id": "NP_001341379.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 1086,
"cds_start": 667,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 5466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
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}