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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: 19-49447419-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49447419&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49447419,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017916.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Gln177Arg",
"transcript": "NM_017916.3",
"protein_id": "NP_060386.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 290,
"cds_start": 530,
"cds_end": null,
"cds_length": 873,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 1197,
"mane_select": "ENST00000262265.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017916.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Gln177Arg",
"transcript": "ENST00000262265.10",
"protein_id": "ENSP00000262265.4",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 290,
"cds_start": 530,
"cds_end": null,
"cds_length": 873,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 1197,
"mane_select": "NM_017916.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262265.10"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Gln177Arg",
"transcript": "ENST00000943281.1",
"protein_id": "ENSP00000613340.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 325,
"cds_start": 530,
"cds_end": null,
"cds_length": 978,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 1323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943281.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "c.581A>G",
"hgvs_p": "p.Gln194Arg",
"transcript": "ENST00000911068.1",
"protein_id": "ENSP00000581127.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 307,
"cds_start": 581,
"cds_end": null,
"cds_length": 924,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 1347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911068.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Gln177Arg",
"transcript": "ENST00000596049.5",
"protein_id": "ENSP00000470445.1",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 290,
"cds_start": 530,
"cds_end": null,
"cds_length": 873,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596049.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Gln177Arg",
"transcript": "ENST00000911064.1",
"protein_id": "ENSP00000581123.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 290,
"cds_start": 530,
"cds_end": null,
"cds_length": 873,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 1119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911064.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Gln177Arg",
"transcript": "ENST00000911065.1",
"protein_id": "ENSP00000581124.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 290,
"cds_start": 530,
"cds_end": null,
"cds_length": 873,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 1100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911065.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Gln177Arg",
"transcript": "ENST00000911066.1",
"protein_id": "ENSP00000581125.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 290,
"cds_start": 530,
"cds_end": null,
"cds_length": 873,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 1187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911066.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Gln177Arg",
"transcript": "ENST00000911067.1",
"protein_id": "ENSP00000581126.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 290,
"cds_start": 530,
"cds_end": null,
"cds_length": 873,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911067.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "c.527A>G",
"hgvs_p": "p.Gln176Arg",
"transcript": "ENST00000911069.1",
"protein_id": "ENSP00000581128.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 289,
"cds_start": 527,
"cds_end": null,
"cds_length": 870,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911069.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Gln177Arg",
"transcript": "ENST00000911071.1",
"protein_id": "ENSP00000581130.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 279,
"cds_start": 530,
"cds_end": null,
"cds_length": 840,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911071.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Gln166Arg",
"transcript": "ENST00000601807.5",
"protein_id": "ENSP00000469693.1",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 272,
"cds_start": 497,
"cds_end": null,
"cds_length": 821,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601807.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.Gln222Arg",
"transcript": "ENST00000599366.5",
"protein_id": "ENSP00000469087.1",
"transcript_support_level": 3,
"aa_start": 222,
"aa_end": null,
"aa_length": 235,
"cds_start": 665,
"cds_end": null,
"cds_length": 709,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599366.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Gln117Arg",
"transcript": "ENST00000911070.1",
"protein_id": "ENSP00000581129.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 230,
"cds_start": 350,
"cds_end": null,
"cds_length": 693,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911070.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "c.293A>G",
"hgvs_p": "p.Gln98Arg",
"transcript": "ENST00000919081.1",
"protein_id": "ENSP00000589140.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 211,
"cds_start": 293,
"cds_end": null,
"cds_length": 636,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919081.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.Gln102Arg",
"transcript": "ENST00000600875.5",
"protein_id": "ENSP00000473095.1",
"transcript_support_level": 5,
"aa_start": 102,
"aa_end": null,
"aa_length": 182,
"cds_start": 305,
"cds_end": null,
"cds_length": 549,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600875.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Gln177Arg",
"transcript": "XM_047439024.1",
"protein_id": "XP_047294980.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 233,
"cds_start": 530,
"cds_end": null,
"cds_length": 702,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 1066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439024.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Gln50Arg",
"transcript": "XM_024451570.2",
"protein_id": "XP_024307338.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 163,
"cds_start": 149,
"cds_end": null,
"cds_length": 492,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451570.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "n.658A>G",
"hgvs_p": null,
"transcript": "ENST00000593629.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1084,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000593629.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "n.709A>G",
"hgvs_p": null,
"transcript": "ENST00000595516.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 841,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000595516.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "n.315A>G",
"hgvs_p": null,
"transcript": "ENST00000596651.5",
"protein_id": "ENSP00000470639.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 741,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000596651.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D1",
"gene_hgnc_id": 26075,
"hgvs_c": "n.233A>G",
"hgvs_p": null,
"transcript": "ENST00000596895.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}