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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: 3-122912986-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=122912986&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 122912986,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001256347.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2582C>T",
"hgvs_p": "p.Pro861Leu",
"transcript": "NM_001031702.4",
"protein_id": "NP_001026872.2",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1151,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357599.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031702.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2582C>T",
"hgvs_p": "p.Pro861Leu",
"transcript": "ENST00000357599.8",
"protein_id": "ENSP00000350215.3",
"transcript_support_level": 1,
"aa_start": 861,
"aa_end": null,
"aa_length": 1151,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001031702.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357599.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2744C>T",
"hgvs_p": "p.Pro915Leu",
"transcript": "NM_001256347.1",
"protein_id": "NP_001243276.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1205,
"cds_start": 2744,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256347.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2744C>T",
"hgvs_p": "p.Pro915Leu",
"transcript": "ENST00000451055.6",
"protein_id": "ENSP00000389588.2",
"transcript_support_level": 2,
"aa_start": 915,
"aa_end": null,
"aa_length": 1205,
"cds_start": 2744,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451055.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2654C>T",
"hgvs_p": "p.Pro885Leu",
"transcript": "NM_001437563.1",
"protein_id": "NP_001424492.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1175,
"cds_start": 2654,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437563.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2654C>T",
"hgvs_p": "p.Pro885Leu",
"transcript": "NM_001437565.1",
"protein_id": "NP_001424494.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1174,
"cds_start": 2654,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437565.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2582C>T",
"hgvs_p": "p.Pro861Leu",
"transcript": "NM_001256346.2",
"protein_id": "NP_001243275.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1151,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256346.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2582C>T",
"hgvs_p": "p.Pro861Leu",
"transcript": "ENST00000616742.4",
"protein_id": "ENSP00000479602.1",
"transcript_support_level": 5,
"aa_start": 861,
"aa_end": null,
"aa_length": 1151,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616742.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2582C>T",
"hgvs_p": "p.Pro861Leu",
"transcript": "ENST00000907747.1",
"protein_id": "ENSP00000577806.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1151,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907747.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2579C>T",
"hgvs_p": "p.Pro860Leu",
"transcript": "NM_001437573.1",
"protein_id": "NP_001424502.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1150,
"cds_start": 2579,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437573.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2582C>T",
"hgvs_p": "p.Pro861Leu",
"transcript": "NM_001437623.1",
"protein_id": "NP_001424552.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1150,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437623.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2582C>T",
"hgvs_p": "p.Pro861Leu",
"transcript": "ENST00000907744.1",
"protein_id": "ENSP00000577803.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1150,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907744.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2579C>T",
"hgvs_p": "p.Pro860Leu",
"transcript": "ENST00000970353.1",
"protein_id": "ENSP00000640412.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2579,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970353.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2558C>T",
"hgvs_p": "p.Pro853Leu",
"transcript": "ENST00000936475.1",
"protein_id": "ENSP00000606534.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 1143,
"cds_start": 2558,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936475.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2582C>T",
"hgvs_p": "p.Pro861Leu",
"transcript": "NM_001437550.1",
"protein_id": "NP_001424479.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1136,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437550.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2582C>T",
"hgvs_p": "p.Pro861Leu",
"transcript": "ENST00000907746.1",
"protein_id": "ENSP00000577805.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1136,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907746.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2582C>T",
"hgvs_p": "p.Pro861Leu",
"transcript": "ENST00000970355.1",
"protein_id": "ENSP00000640414.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1136,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970355.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2582C>T",
"hgvs_p": "p.Pro861Leu",
"transcript": "ENST00000907745.1",
"protein_id": "ENSP00000577804.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907745.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2516C>T",
"hgvs_p": "p.Pro839Leu",
"transcript": "ENST00000970354.1",
"protein_id": "ENSP00000640413.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2516,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970354.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2507C>T",
"hgvs_p": "p.Pro836Leu",
"transcript": "ENST00000936472.1",
"protein_id": "ENSP00000606531.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2507,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936472.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2486C>T",
"hgvs_p": "p.Pro829Leu",
"transcript": "ENST00000936473.1",
"protein_id": "ENSP00000606532.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2486,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936473.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.2480C>T",
"hgvs_p": "p.Pro827Leu",
"transcript": "NM_001410801.1",
"protein_id": "NP_001397730.1",
"transcript_support_level": null,
"aa_start": 827,
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"phenotype_combined": "not specified",
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}
],
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}