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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: 11-119092489-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=119092489&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 119092489,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000652429.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246His",
"transcript": "NM_000190.4",
"protein_id": "NP_000181.2",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 361,
"cds_start": 737,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": "ENST00000652429.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246His",
"transcript": "ENST00000652429.1",
"protein_id": "ENSP00000498786.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 361,
"cds_start": 737,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": "NM_000190.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.686G>A",
"hgvs_p": "p.Arg229His",
"transcript": "ENST00000392841.1",
"protein_id": "ENSP00000376584.1",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 344,
"cds_start": 686,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 1411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "n.*872G>A",
"hgvs_p": null,
"transcript": "ENST00000545621.5",
"protein_id": "ENSP00000444849.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "n.*872G>A",
"hgvs_p": null,
"transcript": "ENST00000545621.5",
"protein_id": "ENSP00000444849.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Arg243His",
"transcript": "NM_001425056.1",
"protein_id": "NP_001411985.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 358,
"cds_start": 728,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"transcript": "NM_001425057.1",
"protein_id": "NP_001411986.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 355,
"cds_start": 719,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"transcript": "ENST00000442944.7",
"protein_id": "ENSP00000392041.3",
"transcript_support_level": 5,
"aa_start": 240,
"aa_end": null,
"aa_length": 355,
"cds_start": 719,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 1448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.698G>A",
"hgvs_p": "p.Arg233His",
"transcript": "NM_001425058.1",
"protein_id": "NP_001411987.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 348,
"cds_start": 698,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.686G>A",
"hgvs_p": "p.Arg229His",
"transcript": "NM_001024382.2",
"protein_id": "NP_001019553.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 344,
"cds_start": 686,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 1411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.686G>A",
"hgvs_p": "p.Arg229His",
"transcript": "NM_001425052.1",
"protein_id": "NP_001411981.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 344,
"cds_start": 686,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.686G>A",
"hgvs_p": "p.Arg229His",
"transcript": "NM_001425053.1",
"protein_id": "NP_001411982.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 344,
"cds_start": 686,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.686G>A",
"hgvs_p": "p.Arg229His",
"transcript": "NM_001425054.1",
"protein_id": "NP_001411983.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 344,
"cds_start": 686,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 1587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.686G>A",
"hgvs_p": "p.Arg229His",
"transcript": "ENST00000537841.5",
"protein_id": "ENSP00000444730.1",
"transcript_support_level": 5,
"aa_start": 229,
"aa_end": null,
"aa_length": 344,
"cds_start": 686,
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"cdna_start": 977,
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"cdna_length": 1559,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.686G>A",
"hgvs_p": "p.Arg229His",
"transcript": "ENST00000648374.1",
"protein_id": "ENSP00000497255.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 344,
"cds_start": 686,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 1477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Arg228His",
"transcript": "NM_001425059.1",
"protein_id": "NP_001411988.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 343,
"cds_start": 683,
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"cdna_start": 836,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Arg223His",
"transcript": "ENST00000650101.1",
"protein_id": "ENSP00000496970.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 338,
"cds_start": 668,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Arg215His",
"transcript": "ENST00000543090.5",
"protein_id": "ENSP00000445429.1",
"transcript_support_level": 5,
"aa_start": 215,
"aa_end": null,
"aa_length": 330,
"cds_start": 644,
"cds_end": null,
"cds_length": 993,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 1347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "NM_001425062.1",
"protein_id": "NP_001411991.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 306,
"cds_start": 572,
"cds_end": null,
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"cdna_start": 1031,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "NM_001425063.1",
"protein_id": "NP_001411992.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 306,
"cds_start": 572,
"cds_end": null,
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"cdna_start": 927,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "ENST00000686218.1",
"protein_id": "ENSP00000509288.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 306,
"cds_start": 572,
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"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.686G>A",
"hgvs_p": "p.Arg229His",
"transcript": "XM_017017629.2",
"protein_id": "XP_016873118.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 344,
"cds_start": 686,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 1491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "XM_011542796.2",
"protein_id": "XP_011541098.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
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"phenotype_combined": "not provided|Acute intermittent porphyria",
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}
],
"message": null
}