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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: 16-19682271-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=19682271&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 19682271,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020314.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2408A>G",
"hgvs_p": "p.Asn803Ser",
"transcript": "NM_020314.7",
"protein_id": "NP_064710.5",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 963,
"cds_start": 2408,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000417362.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020314.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2408A>G",
"hgvs_p": "p.Asn803Ser",
"transcript": "ENST00000417362.7",
"protein_id": "ENSP00000395973.3",
"transcript_support_level": 1,
"aa_start": 803,
"aa_end": null,
"aa_length": 963,
"cds_start": 2408,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020314.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417362.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2675A>G",
"hgvs_p": "p.Asn892Ser",
"transcript": "ENST00000251143.9",
"protein_id": "ENSP00000251143.6",
"transcript_support_level": 1,
"aa_start": 892,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2675,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251143.9"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Asn552Ser",
"transcript": "ENST00000543152.5",
"protein_id": "ENSP00000457973.1",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 712,
"cds_start": 1655,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543152.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2408A>G",
"hgvs_p": "p.Asn803Ser",
"transcript": "ENST00000925646.1",
"protein_id": "ENSP00000595705.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 989,
"cds_start": 2408,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925646.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2360A>G",
"hgvs_p": "p.Asn787Ser",
"transcript": "ENST00000959641.1",
"protein_id": "ENSP00000629700.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 947,
"cds_start": 2360,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959641.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2354A>G",
"hgvs_p": "p.Asn785Ser",
"transcript": "ENST00000959642.1",
"protein_id": "ENSP00000629701.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 945,
"cds_start": 2354,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959642.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2348A>G",
"hgvs_p": "p.Asn783Ser",
"transcript": "ENST00000858380.1",
"protein_id": "ENSP00000528439.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 943,
"cds_start": 2348,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858380.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2345A>G",
"hgvs_p": "p.Asn782Ser",
"transcript": "ENST00000858387.1",
"protein_id": "ENSP00000528446.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 942,
"cds_start": 2345,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858387.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2330A>G",
"hgvs_p": "p.Asn777Ser",
"transcript": "NM_001365293.2",
"protein_id": "NP_001352222.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 937,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365293.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2330A>G",
"hgvs_p": "p.Asn777Ser",
"transcript": "ENST00000858378.1",
"protein_id": "ENSP00000528437.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 937,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858378.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2330A>G",
"hgvs_p": "p.Asn777Ser",
"transcript": "ENST00000858385.1",
"protein_id": "ENSP00000528444.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 937,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858385.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Asn776Ser",
"transcript": "ENST00000858381.1",
"protein_id": "ENSP00000528440.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 936,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858381.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Asn776Ser",
"transcript": "ENST00000858383.1",
"protein_id": "ENSP00000528442.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 936,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858383.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2462A>G",
"hgvs_p": "p.Asn821Ser",
"transcript": "ENST00000925649.1",
"protein_id": "ENSP00000595708.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 932,
"cds_start": 2462,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925649.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2309A>G",
"hgvs_p": "p.Asn770Ser",
"transcript": "ENST00000959638.1",
"protein_id": "ENSP00000629697.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 930,
"cds_start": 2309,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959638.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2285A>G",
"hgvs_p": "p.Asn762Ser",
"transcript": "ENST00000858384.1",
"protein_id": "ENSP00000528443.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 922,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858384.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2423A>G",
"hgvs_p": "p.Asn808Ser",
"transcript": "ENST00000959639.1",
"protein_id": "ENSP00000629698.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 919,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959639.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2264A>G",
"hgvs_p": "p.Asn755Ser",
"transcript": "ENST00000925650.1",
"protein_id": "ENSP00000595709.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 915,
"cds_start": 2264,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925650.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2408A>G",
"hgvs_p": "p.Asn803Ser",
"transcript": "ENST00000858382.1",
"protein_id": "ENSP00000528441.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 914,
"cds_start": 2408,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858382.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2207A>G",
"hgvs_p": "p.Asn736Ser",
"transcript": "NM_001365294.2",
"protein_id": "NP_001352223.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 896,
"cds_start": 2207,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365294.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2207A>G",
"hgvs_p": "p.Asn736Ser",
"transcript": "ENST00000858379.1",
"protein_id": "ENSP00000528438.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 896,
"cds_start": 2207,
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}
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}