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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: 9-112250944-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=112250944&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 112250944,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001244898.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Met263Val",
"transcript": "NM_001163788.4",
"protein_id": "NP_001157260.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 524,
"cds_start": 787,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 7192,
"mane_select": "ENST00000374257.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163788.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Met263Val",
"transcript": "ENST00000374257.6",
"protein_id": "ENSP00000363375.1",
"transcript_support_level": 2,
"aa_start": 263,
"aa_end": null,
"aa_length": 524,
"cds_start": 787,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 7192,
"mane_select": "NM_001163788.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374257.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.889A>G",
"hgvs_p": "p.Met297Val",
"transcript": "NM_001244898.1",
"protein_id": "NP_001231827.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 558,
"cds_start": 889,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 7996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244898.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.889A>G",
"hgvs_p": "p.Met297Val",
"transcript": "ENST00000210227.5",
"protein_id": "ENSP00000210227.5",
"transcript_support_level": 2,
"aa_start": 297,
"aa_end": null,
"aa_length": 558,
"cds_start": 889,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 2167,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000210227.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.880A>G",
"hgvs_p": "p.Met294Val",
"transcript": "NM_001163790.2",
"protein_id": "NP_001157262.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 555,
"cds_start": 880,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 7991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163790.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.880A>G",
"hgvs_p": "p.Met294Val",
"transcript": "ENST00000450374.2",
"protein_id": "ENSP00000388024.2",
"transcript_support_level": 5,
"aa_start": 294,
"aa_end": null,
"aa_length": 555,
"cds_start": 880,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 7041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450374.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Met263Val",
"transcript": "ENST00000932749.1",
"protein_id": "ENSP00000602808.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 555,
"cds_start": 787,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 7169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932749.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Met291Val",
"transcript": "NM_005156.7",
"protein_id": "NP_005147.3",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 552,
"cds_start": 871,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 7937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005156.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Met291Val",
"transcript": "ENST00000374255.7",
"protein_id": "ENSP00000363373.2",
"transcript_support_level": 5,
"aa_start": 291,
"aa_end": null,
"aa_length": 552,
"cds_start": 871,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 7943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374255.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Met260Val",
"transcript": "ENST00000874009.1",
"protein_id": "ENSP00000544068.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 552,
"cds_start": 778,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 4214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874009.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Met263Val",
"transcript": "NM_001244897.2",
"protein_id": "NP_001231826.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 547,
"cds_start": 787,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244897.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Met263Val",
"transcript": "ENST00000850868.1",
"protein_id": "ENSP00000520953.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 524,
"cds_start": 787,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850868.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Met263Val",
"transcript": "ENST00000874008.1",
"protein_id": "ENSP00000544067.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 524,
"cds_start": 787,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 7080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874008.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Met263Val",
"transcript": "ENST00000932753.1",
"protein_id": "ENSP00000602812.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 524,
"cds_start": 787,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 7118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932753.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Met263Val",
"transcript": "ENST00000932756.1",
"protein_id": "ENSP00000602815.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 524,
"cds_start": 787,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 7742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932756.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Met263Val",
"transcript": "ENST00000968728.1",
"protein_id": "ENSP00000638787.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 524,
"cds_start": 787,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 4615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968728.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Met260Val",
"transcript": "NM_001375918.1",
"protein_id": "NP_001362847.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 521,
"cds_start": 778,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 7183,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375918.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Met260Val",
"transcript": "ENST00000874007.1",
"protein_id": "ENSP00000544066.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 521,
"cds_start": 778,
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"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 7090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874007.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Met260Val",
"transcript": "ENST00000932751.1",
"protein_id": "ENSP00000602810.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 521,
"cds_start": 778,
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"cds_length": 1566,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 7061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932751.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Met260Val",
"transcript": "ENST00000932752.1",
"protein_id": "ENSP00000602811.1",
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"aa_start": 260,
"aa_end": null,
"aa_length": 521,
"cds_start": 778,
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"cdna_start": 981,
"cdna_end": null,
"cdna_length": 7016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932752.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Met260Val",
"transcript": "ENST00000932754.1",
"protein_id": "ENSP00000602813.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 521,
"cds_start": 778,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 4901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932754.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Met260Val",
"transcript": "ENST00000932755.1",
"protein_id": "ENSP00000602814.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 521,
"cds_start": 778,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1050,
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