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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: 20-3230258-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3230258&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 3230258,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001174090.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1418C>G",
"hgvs_p": "p.Ser473Trp",
"transcript": "NM_001174089.2",
"protein_id": "NP_001167560.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 875,
"cds_start": 1418,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": "ENST00000642402.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174089.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1418C>G",
"hgvs_p": "p.Ser473Trp",
"transcript": "ENST00000642402.1",
"protein_id": "ENSP00000493503.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 875,
"cds_start": 1418,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": "NM_001174089.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642402.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1466C>G",
"hgvs_p": "p.Ser489Trp",
"transcript": "ENST00000380056.7",
"protein_id": "ENSP00000369396.3",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 891,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 3094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380056.7"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1547C>G",
"hgvs_p": "p.Ser516Trp",
"transcript": "NM_001174090.2",
"protein_id": "NP_001167561.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 918,
"cds_start": 1547,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1670,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174090.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1547C>G",
"hgvs_p": "p.Ser516Trp",
"transcript": "ENST00000380059.7",
"protein_id": "ENSP00000369399.3",
"transcript_support_level": 2,
"aa_start": 516,
"aa_end": null,
"aa_length": 918,
"cds_start": 1547,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380059.7"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1466C>G",
"hgvs_p": "p.Ser489Trp",
"transcript": "NM_032034.4",
"protein_id": "NP_114423.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 891,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 3089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032034.4"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1433C>G",
"hgvs_p": "p.Ser478Trp",
"transcript": "NM_001400280.1",
"protein_id": "NP_001387209.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 880,
"cds_start": 1433,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400280.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1412C>G",
"hgvs_p": "p.Ser471Trp",
"transcript": "ENST00000925552.1",
"protein_id": "ENSP00000595611.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 873,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925552.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Ser454Trp",
"transcript": "NM_001400277.1",
"protein_id": "NP_001387206.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 856,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400277.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Ser454Trp",
"transcript": "NM_001400278.1",
"protein_id": "NP_001387207.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 856,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400278.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Ser454Trp",
"transcript": "NM_001400279.1",
"protein_id": "NP_001387208.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 856,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400279.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1349C>G",
"hgvs_p": "p.Ser450Trp",
"transcript": "ENST00000644011.1",
"protein_id": "ENSP00000496214.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 852,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644011.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1418C>G",
"hgvs_p": "p.Ser473Trp",
"transcript": "ENST00000876657.1",
"protein_id": "ENSP00000546716.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 851,
"cds_start": 1418,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 3007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876657.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1346C>G",
"hgvs_p": "p.Ser449Trp",
"transcript": "ENST00000925551.1",
"protein_id": "ENSP00000595610.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 851,
"cds_start": 1346,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925551.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1343C>G",
"hgvs_p": "p.Ser448Trp",
"transcript": "ENST00000876658.1",
"protein_id": "ENSP00000546717.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 850,
"cds_start": 1343,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876658.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1304C>G",
"hgvs_p": "p.Ser435Trp",
"transcript": "NM_001363745.2",
"protein_id": "NP_001350674.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 837,
"cds_start": 1304,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2932,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363745.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1304C>G",
"hgvs_p": "p.Ser435Trp",
"transcript": "ENST00000647296.1",
"protein_id": "ENSP00000495050.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 837,
"cds_start": 1304,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647296.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1418C>G",
"hgvs_p": "p.Ser473Trp",
"transcript": "ENST00000876659.1",
"protein_id": "ENSP00000546718.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 835,
"cds_start": 1418,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876659.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1289C>G",
"hgvs_p": "p.Ser430Trp",
"transcript": "ENST00000644692.1",
"protein_id": "ENSP00000493824.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 808,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644692.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1466C>G",
"hgvs_p": "p.Ser489Trp",
"transcript": "XM_047440540.1",
"protein_id": "XP_047296496.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 891,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 1926,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440540.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1547C>G",
"hgvs_p": "p.Ser516Trp",
"transcript": "XM_017028093.2",
"protein_id": "XP_016883582.2",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 878,
"cds_start": 1547,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 1672,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028093.2"
},
{
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{
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],
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"clinvar_classification": "Pathogenic",
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"phenotype_combined": "Congenital hereditary endothelial dystrophy of cornea",
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}
],
"message": null
}