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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: 6-32845659-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32845659&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32845659,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000593.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.2167G>A",
"hgvs_p": "p.Gly723Arg",
"transcript": "NM_000593.6",
"protein_id": "NP_000584.3",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 748,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": "ENST00000354258.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000593.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.2167G>A",
"hgvs_p": "p.Gly723Arg",
"transcript": "ENST00000354258.5",
"protein_id": "ENSP00000346206.5",
"transcript_support_level": 1,
"aa_start": 723,
"aa_end": null,
"aa_length": 748,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": "NM_000593.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354258.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.2179G>A",
"hgvs_p": "p.Gly727Arg",
"transcript": "ENST00000920268.1",
"protein_id": "ENSP00000590327.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 752,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2231,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920268.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.2149G>A",
"hgvs_p": "p.Gly717Arg",
"transcript": "ENST00000875705.1",
"protein_id": "ENSP00000545764.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 742,
"cds_start": 2149,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2245,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875705.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Gly688Arg",
"transcript": "ENST00000875704.1",
"protein_id": "ENSP00000545763.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 713,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2266,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875704.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.2038G>A",
"hgvs_p": "p.Gly680Arg",
"transcript": "ENST00000698424.1",
"protein_id": "ENSP00000513712.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 705,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2101,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698424.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1993G>A",
"hgvs_p": "p.Gly665Arg",
"transcript": "ENST00000920267.1",
"protein_id": "ENSP00000590326.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 690,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 2375,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920267.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Gly660Arg",
"transcript": "ENST00000698422.1",
"protein_id": "ENSP00000513710.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 685,
"cds_start": 1978,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698422.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1969G>A",
"hgvs_p": "p.Gly657Arg",
"transcript": "ENST00000875706.1",
"protein_id": "ENSP00000545765.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 682,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2044,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875706.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Gly522Arg",
"transcript": "NM_001292022.2",
"protein_id": "NP_001278951.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 547,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001292022.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Gly238Arg",
"transcript": "ENST00000643049.2",
"protein_id": "ENSP00000494148.2",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 263,
"cds_start": 712,
"cds_end": null,
"cds_length": 792,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 1319,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643049.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.2262G>A",
"hgvs_p": "p.Arg754Arg",
"transcript": "ENST00000698423.1",
"protein_id": "ENSP00000513711.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 829,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2343,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698423.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMB9",
"gene_hgnc_id": 9546,
"hgvs_c": "c.-10+1385C>T",
"hgvs_p": null,
"transcript": "ENST00000395330.6",
"protein_id": "ENSP00000378739.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": null,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395330.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMB9",
"gene_hgnc_id": 9546,
"hgvs_c": "c.-10+789C>T",
"hgvs_p": null,
"transcript": "ENST00000414474.5",
"protein_id": "ENSP00000394363.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": null,
"cds_end": null,
"cds_length": 395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414474.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "PSMB8-AS1",
"gene_hgnc_id": 39758,
"hgvs_c": "n.979C>T",
"hgvs_p": null,
"transcript": "ENST00000412095.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000412095.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB8-AS1",
"gene_hgnc_id": 39758,
"hgvs_c": "n.447C>T",
"hgvs_p": null,
"transcript": "ENST00000413039.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 1280,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000413039.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "PSMB8-AS1",
"gene_hgnc_id": 39758,
"hgvs_c": "n.504C>T",
"hgvs_p": null,
"transcript": "ENST00000415067.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000415067.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB8-AS1",
"gene_hgnc_id": 39758,
"hgvs_c": "n.665C>T",
"hgvs_p": null,
"transcript": "ENST00000429600.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 1219,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000429600.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "PSMB8-AS1",
"gene_hgnc_id": 39758,
"hgvs_c": "n.431C>T",
"hgvs_p": null,
"transcript": "ENST00000453426.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 1272,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000453426.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB8-AS1",
"gene_hgnc_id": 39758,
"hgvs_c": "n.798C>T",
"hgvs_p": null,
"transcript": "ENST00000458296.2",
"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": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000458296.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.2092G>A",
"hgvs_p": null,
"transcript": "ENST00000486332.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486332.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.1603G>A",
"hgvs_p": null,
"transcript": "ENST00000643923.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000643923.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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{
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{
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],
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}