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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: 2-227007475-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=227007475&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 227007475,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000396625.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4923C>A",
"hgvs_p": "p.Cys1641*",
"transcript": "NM_000092.5",
"protein_id": "NP_000083.3",
"transcript_support_level": null,
"aa_start": 1641,
"aa_end": null,
"aa_length": 1690,
"cds_start": 4923,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 5223,
"cdna_end": null,
"cdna_length": 9984,
"mane_select": "ENST00000396625.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4923C>A",
"hgvs_p": "p.Cys1641*",
"transcript": "ENST00000396625.5",
"protein_id": "ENSP00000379866.3",
"transcript_support_level": 5,
"aa_start": 1641,
"aa_end": null,
"aa_length": 1690,
"cds_start": 4923,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 5223,
"cdna_end": null,
"cdna_length": 9984,
"mane_select": "NM_000092.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.525C>A",
"hgvs_p": "p.Cys175*",
"transcript": "ENST00000682098.1",
"protein_id": "ENSP00000508331.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 224,
"cds_start": 525,
"cds_end": null,
"cds_length": 675,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4923C>A",
"hgvs_p": "p.Cys1641*",
"transcript": "XM_005246281.4",
"protein_id": "XP_005246338.1",
"transcript_support_level": null,
"aa_start": 1641,
"aa_end": null,
"aa_length": 1690,
"cds_start": 4923,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 5117,
"cdna_end": null,
"cdna_length": 9878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4923C>A",
"hgvs_p": "p.Cys1641*",
"transcript": "XM_047443228.1",
"protein_id": "XP_047299184.1",
"transcript_support_level": null,
"aa_start": 1641,
"aa_end": null,
"aa_length": 1690,
"cds_start": 4923,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 5100,
"cdna_end": null,
"cdna_length": 9861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4842C>A",
"hgvs_p": "p.Cys1614*",
"transcript": "XM_011510557.3",
"protein_id": "XP_011508859.1",
"transcript_support_level": null,
"aa_start": 1614,
"aa_end": null,
"aa_length": 1663,
"cds_start": 4842,
"cds_end": null,
"cds_length": 4992,
"cdna_start": 5142,
"cdna_end": null,
"cdna_length": 9903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4815C>A",
"hgvs_p": "p.Cys1605*",
"transcript": "XM_011510558.3",
"protein_id": "XP_011508860.1",
"transcript_support_level": null,
"aa_start": 1605,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4815,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 5115,
"cdna_end": null,
"cdna_length": 9876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4806C>A",
"hgvs_p": "p.Cys1602*",
"transcript": "XM_017003297.2",
"protein_id": "XP_016858786.1",
"transcript_support_level": null,
"aa_start": 1602,
"aa_end": null,
"aa_length": 1651,
"cds_start": 4806,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 5106,
"cdna_end": null,
"cdna_length": 9867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4734C>A",
"hgvs_p": "p.Cys1578*",
"transcript": "XM_006712246.4",
"protein_id": "XP_006712309.1",
"transcript_support_level": null,
"aa_start": 1578,
"aa_end": null,
"aa_length": 1627,
"cds_start": 4734,
"cds_end": null,
"cds_length": 4884,
"cdna_start": 5034,
"cdna_end": null,
"cdna_length": 9795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4368C>A",
"hgvs_p": "p.Cys1456*",
"transcript": "XM_005246282.4",
"protein_id": "XP_005246339.1",
"transcript_support_level": null,
"aa_start": 1456,
"aa_end": null,
"aa_length": 1505,
"cds_start": 4368,
"cds_end": null,
"cds_length": 4518,
"cdna_start": 4668,
"cdna_end": null,
"cdna_length": 9429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3249C>A",
"hgvs_p": "p.Cys1083*",
"transcript": "XM_011510572.4",
"protein_id": "XP_011508874.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3249,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 3476,
"cdna_end": null,
"cdna_length": 8237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.*685C>A",
"hgvs_p": null,
"transcript": "XM_047443246.1",
"protein_id": "XP_047299202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1470,
"cds_start": -4,
"cds_end": null,
"cds_length": 4413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 49,
"intron_rank": 47,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4809+543C>A",
"hgvs_p": null,
"transcript": "XM_011510559.3",
"protein_id": "XP_011508861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1612,
"cds_start": -4,
"cds_end": null,
"cds_length": 4839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 49,
"intron_rank": 47,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4809+543C>A",
"hgvs_p": null,
"transcript": "XM_011510560.3",
"protein_id": "XP_011508862.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6027,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 47,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4809+543C>A",
"hgvs_p": null,
"transcript": "XM_047443241.1",
"protein_id": "XP_047299197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1612,
"cds_start": -4,
"cds_end": null,
"cds_length": 4839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 49,
"intron_rank": 47,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4809+543C>A",
"hgvs_p": null,
"transcript": "XM_047443242.1",
"protein_id": "XP_047299198.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 47,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4809+543C>A",
"hgvs_p": null,
"transcript": "XM_011510561.3",
"protein_id": "XP_011508863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1608,
"cds_start": -4,
"cds_end": null,
"cds_length": 4827,
"cdna_start": null,
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"cdna_length": 5688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 47,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4809+543C>A",
"hgvs_p": null,
"transcript": "XM_011510562.3",
"protein_id": "XP_011508864.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1608,
"cds_start": -4,
"cds_end": null,
"cds_length": 4827,
"cdna_start": null,
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"cdna_length": 8448,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 47,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4809+543C>A",
"hgvs_p": null,
"transcript": "XM_047443245.1",
"protein_id": "XP_047299201.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4216+14573C>A",
"hgvs_p": null,
"transcript": "XM_011510565.3",
"protein_id": "XP_011508867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1424,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 46,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4216+14573C>A",
"hgvs_p": null,
"transcript": "XM_011510566.3",
"protein_id": "XP_011508868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1420,
"cds_start": -4,
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"cds_length": 4263,
"cdna_start": null,
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"cdna_length": 5457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 46,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4216+14573C>A",
"hgvs_p": null,
"transcript": "XM_011510567.3",
"protein_id": "XP_011508869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1420,
"cds_start": -4,
"cds_end": null,
"cds_length": 4263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 46,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.4216+14573C>A",
"hgvs_p": null,
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],
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{
"score": 8,
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"verdict": "Likely_pathogenic",
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],
"clinvar_disease": "Autosomal recessive Alport syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Autosomal recessive Alport syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}