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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: 11-64739431-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64739431&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64739431,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000394432.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.742G>T",
"hgvs_p": "p.Gly248Trp",
"transcript": "NM_001098671.2",
"protein_id": "NP_001092141.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 609,
"cds_start": 742,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 2268,
"mane_select": "ENST00000394432.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.742G>T",
"hgvs_p": "p.Gly248Trp",
"transcript": "ENST00000394432.8",
"protein_id": "ENSP00000377953.3",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 609,
"cds_start": 742,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 2268,
"mane_select": "NM_001098671.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.742G>T",
"hgvs_p": "p.Gly248Trp",
"transcript": "ENST00000354024.7",
"protein_id": "ENSP00000338864.3",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 609,
"cds_start": 742,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 2310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.742G>T",
"hgvs_p": "p.Gly248Trp",
"transcript": "ENST00000377497.7",
"protein_id": "ENSP00000366717.3",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 609,
"cds_start": 742,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 2221,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "n.*443G>T",
"hgvs_p": null,
"transcript": "ENST00000445445.5",
"protein_id": "ENSP00000396029.1",
"transcript_support_level": 5,
"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": 956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "n.*443G>T",
"hgvs_p": null,
"transcript": "ENST00000445445.5",
"protein_id": "ENSP00000396029.1",
"transcript_support_level": 5,
"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": 956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.829G>T",
"hgvs_p": "p.Gly277Trp",
"transcript": "NM_001440703.1",
"protein_id": "NP_001427632.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 639,
"cds_start": 829,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.829G>T",
"hgvs_p": "p.Gly277Trp",
"transcript": "NM_001440704.1",
"protein_id": "NP_001427633.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 638,
"cds_start": 829,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Gly276Trp",
"transcript": "NM_001440705.1",
"protein_id": "NP_001427634.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 637,
"cds_start": 826,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.742G>T",
"hgvs_p": "p.Gly248Trp",
"transcript": "NM_001440690.1",
"protein_id": "NP_001427619.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 610,
"cds_start": 742,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.742G>T",
"hgvs_p": "p.Gly248Trp",
"transcript": "NM_001440691.1",
"protein_id": "NP_001427620.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 610,
"cds_start": 742,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.742G>T",
"hgvs_p": "p.Gly248Trp",
"transcript": "NM_001440692.1",
"protein_id": "NP_001427621.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 610,
"cds_start": 742,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.742G>T",
"hgvs_p": "p.Gly248Trp",
"transcript": "NM_001440693.1",
"protein_id": "NP_001427622.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 610,
"cds_start": 742,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.742G>T",
"hgvs_p": "p.Gly248Trp",
"transcript": "ENST00000377494.5",
"protein_id": "ENSP00000366714.1",
"transcript_support_level": 2,
"aa_start": 248,
"aa_end": null,
"aa_length": 610,
"cds_start": 742,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.742G>T",
"hgvs_p": "p.Gly248Trp",
"transcript": "NM_001098670.2",
"protein_id": "NP_001092140.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 609,
"cds_start": 742,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.742G>T",
"hgvs_p": "p.Gly248Trp",
"transcript": "NM_001440694.1",
"protein_id": "NP_001427623.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 609,
"cds_start": 742,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.742G>T",
"hgvs_p": "p.Gly248Trp",
"transcript": "NM_001440695.1",
"protein_id": "NP_001427624.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 609,
"cds_start": 742,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.742G>T",
"hgvs_p": "p.Gly248Trp",
"transcript": "NM_001440696.1",
"protein_id": "NP_001427625.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 609,
"cds_start": 742,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 2320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.742G>T",
"hgvs_p": "p.Gly248Trp",
"transcript": "NM_001440697.1",
"protein_id": "NP_001427626.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 609,
"cds_start": 742,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.742G>T",
"hgvs_p": "p.Gly248Trp",
"transcript": "NM_001440698.1",
"protein_id": "NP_001427627.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 609,
"cds_start": 742,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 2318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.742G>T",
"hgvs_p": "p.Gly248Trp",
"transcript": "NM_001440699.1",
"protein_id": "NP_001427628.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 609,
"cds_start": 742,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.739G>T",
"hgvs_p": "p.Gly247Trp",
"transcript": "NM_001440700.1",
"protein_id": "NP_001427629.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 609,
"cds_start": 739,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 2268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.742G>T",
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Platelet-type bleeding disorder 18",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}