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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: 3-124764429-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=124764429&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 124764429,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002213.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2266A>G",
"hgvs_p": "p.Lys756Glu",
"transcript": "NM_002213.5",
"protein_id": "NP_002204.2",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 799,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": "ENST00000296181.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002213.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2266A>G",
"hgvs_p": "p.Lys756Glu",
"transcript": "ENST00000296181.9",
"protein_id": "ENSP00000296181.4",
"transcript_support_level": 1,
"aa_start": 756,
"aa_end": null,
"aa_length": 799,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": "NM_002213.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296181.9"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2488A>G",
"hgvs_p": "p.Lys830Glu",
"transcript": "ENST00000905025.1",
"protein_id": "ENSP00000575084.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 873,
"cds_start": 2488,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2825,
"cdna_end": null,
"cdna_length": 4628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905025.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2380A>G",
"hgvs_p": "p.Lys794Glu",
"transcript": "ENST00000965613.1",
"protein_id": "ENSP00000635672.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 837,
"cds_start": 2380,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2820,
"cdna_end": null,
"cdna_length": 3627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965613.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Lys771Glu",
"transcript": "ENST00000965616.1",
"protein_id": "ENSP00000635675.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 814,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2597,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965616.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2263A>G",
"hgvs_p": "p.Lys755Glu",
"transcript": "ENST00000935896.1",
"protein_id": "ENSP00000605955.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 798,
"cds_start": 2263,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 2884,
"cdna_end": null,
"cdna_length": 4693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935896.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2260A>G",
"hgvs_p": "p.Lys754Glu",
"transcript": "ENST00000935903.1",
"protein_id": "ENSP00000605962.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 797,
"cds_start": 2260,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2756,
"cdna_end": null,
"cdna_length": 3563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935903.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2260A>G",
"hgvs_p": "p.Lys754Glu",
"transcript": "ENST00000965615.1",
"protein_id": "ENSP00000635674.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 797,
"cds_start": 2260,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2720,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965615.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2242A>G",
"hgvs_p": "p.Lys748Glu",
"transcript": "ENST00000935905.1",
"protein_id": "ENSP00000605964.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 791,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2687,
"cdna_end": null,
"cdna_length": 3496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935905.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2170A>G",
"hgvs_p": "p.Lys724Glu",
"transcript": "ENST00000935898.1",
"protein_id": "ENSP00000605957.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 767,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 2847,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935898.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2146A>G",
"hgvs_p": "p.Lys716Glu",
"transcript": "ENST00000965612.1",
"protein_id": "ENSP00000635671.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 759,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2595,
"cdna_end": null,
"cdna_length": 3401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965612.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2104A>G",
"hgvs_p": "p.Lys702Glu",
"transcript": "ENST00000935909.1",
"protein_id": "ENSP00000605968.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 745,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2462,
"cdna_end": null,
"cdna_length": 3271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935909.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Lys700Glu",
"transcript": "ENST00000935906.1",
"protein_id": "ENSP00000605965.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 743,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 2523,
"cdna_end": null,
"cdna_length": 3319,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935906.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2080A>G",
"hgvs_p": "p.Lys694Glu",
"transcript": "ENST00000905026.1",
"protein_id": "ENSP00000575085.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 737,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2124,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905026.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2041A>G",
"hgvs_p": "p.Lys681Glu",
"transcript": "ENST00000935895.1",
"protein_id": "ENSP00000605954.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 724,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2664,
"cdna_end": null,
"cdna_length": 4473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935895.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2041A>G",
"hgvs_p": "p.Lys681Glu",
"transcript": "ENST00000965617.1",
"protein_id": "ENSP00000635676.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 724,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965617.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Lys679Glu",
"transcript": "ENST00000935908.1",
"protein_id": "ENSP00000605967.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 722,
"cds_start": 2035,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2425,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935908.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2032A>G",
"hgvs_p": "p.Lys678Glu",
"transcript": "ENST00000935899.1",
"protein_id": "ENSP00000605958.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 721,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2697,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935899.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.2008A>G",
"hgvs_p": "p.Lys670Glu",
"transcript": "ENST00000965614.1",
"protein_id": "ENSP00000635673.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 713,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 3086,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965614.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1975A>G",
"hgvs_p": "p.Lys659Glu",
"transcript": "ENST00000935902.1",
"protein_id": "ENSP00000605961.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 702,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935902.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1945A>G",
"hgvs_p": "p.Lys649Glu",
"transcript": "ENST00000935900.1",
"protein_id": "ENSP00000605959.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 692,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2609,
"cdna_end": null,
"cdna_length": 3418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935900.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1942A>G",
"hgvs_p": "p.Lys648Glu",
"transcript": "NM_001354764.2",
"protein_id": "NP_001341693.1",
"transcript_support_level": null,
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{
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"verdict": "Uncertain_significance",
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],
"inheritance_mode": "",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}