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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: 1-41048735-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=41048735&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 41048735,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001394311.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1261G>A",
"hgvs_p": "p.Val421Ile",
"transcript": "NM_001394311.1",
"protein_id": "NP_001381240.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 670,
"cds_start": 1261,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000695335.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394311.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1261G>A",
"hgvs_p": "p.Val421Ile",
"transcript": "ENST00000695335.1",
"protein_id": "ENSP00000511813.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 670,
"cds_start": 1261,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394311.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695335.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Val411Ile",
"transcript": "ENST00000326197.11",
"protein_id": "ENSP00000318094.7",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 660,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326197.11"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1048G>A",
"hgvs_p": "p.Val350Ile",
"transcript": "ENST00000372595.5",
"protein_id": "ENSP00000361676.1",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 599,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372595.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1090G>A",
"hgvs_p": "p.Val364Ile",
"transcript": "ENST00000372597.5",
"protein_id": "ENSP00000361678.1",
"transcript_support_level": 1,
"aa_start": 364,
"aa_end": null,
"aa_length": 591,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372597.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1048G>A",
"hgvs_p": "p.Val350Ile",
"transcript": "ENST00000372596.5",
"protein_id": "ENSP00000361677.1",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 577,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372596.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1261G>A",
"hgvs_p": "p.Val421Ile",
"transcript": "ENST00000850938.1",
"protein_id": "ENSP00000521019.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 670,
"cds_start": 1261,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850938.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Val411Ile",
"transcript": "NM_001031694.3",
"protein_id": "NP_001026864.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 660,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031694.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Val411Ile",
"transcript": "NM_001394300.1",
"protein_id": "NP_001381229.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 660,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394300.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Val411Ile",
"transcript": "NM_001394301.1",
"protein_id": "NP_001381230.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 660,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394301.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Val411Ile",
"transcript": "NM_001394302.1",
"protein_id": "NP_001381231.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 660,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394302.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1261G>A",
"hgvs_p": "p.Val421Ile",
"transcript": "NM_001172219.2",
"protein_id": "NP_001165690.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 648,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172219.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1261G>A",
"hgvs_p": "p.Val421Ile",
"transcript": "ENST00000337495.9",
"protein_id": "ENSP00000337352.5",
"transcript_support_level": 2,
"aa_start": 421,
"aa_end": null,
"aa_length": 648,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337495.9"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Val411Ile",
"transcript": "NM_001394299.1",
"protein_id": "NP_001381228.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 638,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394299.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Val411Ile",
"transcript": "NM_001394304.1",
"protein_id": "NP_001381233.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 638,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394304.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Val411Ile",
"transcript": "NM_001394305.1",
"protein_id": "NP_001381234.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 638,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394305.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Val411Ile",
"transcript": "NM_001394306.1",
"protein_id": "NP_001381235.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 638,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394306.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1090G>A",
"hgvs_p": "p.Val364Ile",
"transcript": "NM_001394307.1",
"protein_id": "NP_001381236.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 613,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394307.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1048G>A",
"hgvs_p": "p.Val350Ile",
"transcript": "NM_001172221.3",
"protein_id": "NP_001165692.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 599,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172221.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1048G>A",
"hgvs_p": "p.Val350Ile",
"transcript": "NM_001394303.1",
"protein_id": "NP_001381232.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 599,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394303.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1090G>A",
"hgvs_p": "p.Val364Ile",
"transcript": "NM_012236.4",
"protein_id": "NP_036368.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 591,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012236.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1048G>A",
"hgvs_p": "p.Val350Ile",
"transcript": "NM_001172218.2",
"protein_id": "NP_001165689.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 577,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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