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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: 1-169593647-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=169593647&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 169593647,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003005.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2365G>T",
"hgvs_p": "p.Gly789Trp",
"transcript": "NM_003005.4",
"protein_id": "NP_002996.2",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 830,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263686.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003005.4"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2365G>T",
"hgvs_p": "p.Gly789Trp",
"transcript": "ENST00000263686.11",
"protein_id": "ENSP00000263686.5",
"transcript_support_level": 1,
"aa_start": 789,
"aa_end": null,
"aa_length": 830,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003005.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263686.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2284+1045G>T",
"hgvs_p": null,
"transcript": "ENST00000426706.6",
"protein_id": "ENSP00000391694.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 789,
"cds_start": null,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426706.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2365G>T",
"hgvs_p": "p.Gly789Trp",
"transcript": "ENST00000909597.1",
"protein_id": "ENSP00000579656.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 830,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909597.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2365G>T",
"hgvs_p": "p.Gly789Trp",
"transcript": "ENST00000909601.1",
"protein_id": "ENSP00000579660.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 830,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909601.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2365G>T",
"hgvs_p": "p.Gly789Trp",
"transcript": "ENST00000909602.1",
"protein_id": "ENSP00000579661.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 830,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909602.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2365G>T",
"hgvs_p": "p.Gly789Trp",
"transcript": "ENST00000909607.1",
"protein_id": "ENSP00000579666.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 830,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909607.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2365G>T",
"hgvs_p": "p.Gly789Trp",
"transcript": "ENST00000909608.1",
"protein_id": "ENSP00000579667.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 830,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909608.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2365G>T",
"hgvs_p": "p.Gly789Trp",
"transcript": "ENST00000958021.1",
"protein_id": "ENSP00000628080.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 830,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958021.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"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": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2365G>T",
"hgvs_p": "p.Gly789Trp",
"transcript": "ENST00000958023.1",
"protein_id": "ENSP00000628082.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 830,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958023.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2362G>T",
"hgvs_p": "p.Gly788Trp",
"transcript": "ENST00000909604.1",
"protein_id": "ENSP00000579663.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 829,
"cds_start": 2362,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909604.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2362G>T",
"hgvs_p": "p.Gly788Trp",
"transcript": "ENST00000909609.1",
"protein_id": "ENSP00000579668.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 829,
"cds_start": 2362,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909609.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2362G>T",
"hgvs_p": "p.Gly788Trp",
"transcript": "ENST00000958025.1",
"protein_id": "ENSP00000628084.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 829,
"cds_start": 2362,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958025.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2179G>T",
"hgvs_p": "p.Gly727Trp",
"transcript": "ENST00000367786.6",
"protein_id": "ENSP00000356760.1",
"transcript_support_level": 5,
"aa_start": 727,
"aa_end": null,
"aa_length": 768,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367786.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2179G>T",
"hgvs_p": "p.Gly727Trp",
"transcript": "ENST00000367788.6",
"protein_id": "ENSP00000356762.1",
"transcript_support_level": 5,
"aa_start": 727,
"aa_end": null,
"aa_length": 768,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367788.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2179G>T",
"hgvs_p": "p.Gly727Trp",
"transcript": "ENST00000909599.1",
"protein_id": "ENSP00000579658.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 768,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909599.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2179G>T",
"hgvs_p": "p.Gly727Trp",
"transcript": "ENST00000909600.1",
"protein_id": "ENSP00000579659.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 768,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909600.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2179G>T",
"hgvs_p": "p.Gly727Trp",
"transcript": "ENST00000909603.1",
"protein_id": "ENSP00000579662.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 768,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909603.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2179G>T",
"hgvs_p": "p.Gly727Trp",
"transcript": "ENST00000909605.1",
"protein_id": "ENSP00000579664.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 768,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909605.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2179G>T",
"hgvs_p": "p.Gly727Trp",
"transcript": "ENST00000958028.1",
"protein_id": "ENSP00000628087.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 768,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958028.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.2179G>T",
"hgvs_p": "p.Gly727Trp",
"transcript": "ENST00000958029.1",
"protein_id": "ENSP00000628088.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 768,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958029.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.1993G>T",
"hgvs_p": "p.Gly665Trp",
"transcript": "ENST00000958024.1",
"protein_id": "ENSP00000628083.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 706,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}