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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: 17-75239451-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75239451&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75239451,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_138619.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1704G>C",
"hgvs_p": "p.Gln568His",
"transcript": "NM_138619.4",
"protein_id": "NP_619525.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 723,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000537686.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138619.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1704G>C",
"hgvs_p": "p.Gln568His",
"transcript": "ENST00000537686.6",
"protein_id": "ENSP00000438085.3",
"transcript_support_level": 1,
"aa_start": 568,
"aa_end": null,
"aa_length": 723,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138619.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537686.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1605G>C",
"hgvs_p": "p.Gln535His",
"transcript": "ENST00000538886.5",
"protein_id": "ENSP00000446421.2",
"transcript_support_level": 1,
"aa_start": 535,
"aa_end": null,
"aa_length": 690,
"cds_start": 1605,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538886.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "n.*1663G>C",
"hgvs_p": null,
"transcript": "ENST00000621870.4",
"protein_id": "ENSP00000479464.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000621870.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "n.*1663G>C",
"hgvs_p": null,
"transcript": "ENST00000621870.4",
"protein_id": "ENSP00000479464.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000621870.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1704G>C",
"hgvs_p": "p.Gln568His",
"transcript": "ENST00000924703.1",
"protein_id": "ENSP00000594762.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 723,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924703.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1704G>C",
"hgvs_p": "p.Gln568His",
"transcript": "ENST00000924699.1",
"protein_id": "ENSP00000594758.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 721,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924699.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1704G>C",
"hgvs_p": "p.Gln568His",
"transcript": "ENST00000924706.1",
"protein_id": "ENSP00000594765.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 716,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924706.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1644G>C",
"hgvs_p": "p.Gln548His",
"transcript": "ENST00000924702.1",
"protein_id": "ENSP00000594761.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 703,
"cds_start": 1644,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924702.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1638G>C",
"hgvs_p": "p.Gln546His",
"transcript": "ENST00000955609.1",
"protein_id": "ENSP00000625668.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 701,
"cds_start": 1638,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955609.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1605G>C",
"hgvs_p": "p.Gln535His",
"transcript": "NM_014001.5",
"protein_id": "NP_054720.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 690,
"cds_start": 1605,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014001.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1605G>C",
"hgvs_p": "p.Gln535His",
"transcript": "ENST00000924705.1",
"protein_id": "ENSP00000594764.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 688,
"cds_start": 1605,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924705.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1539G>C",
"hgvs_p": "p.Gln513His",
"transcript": "ENST00000924704.1",
"protein_id": "ENSP00000594763.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 668,
"cds_start": 1539,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924704.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1521G>C",
"hgvs_p": "p.Gln507His",
"transcript": "ENST00000924701.1",
"protein_id": "ENSP00000594760.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 662,
"cds_start": 1521,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924701.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1488G>C",
"hgvs_p": "p.Gln496His",
"transcript": "NM_001172703.3",
"protein_id": "NP_001166174.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 651,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172703.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1488G>C",
"hgvs_p": "p.Gln496His",
"transcript": "NM_001291641.2",
"protein_id": "NP_001278570.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 651,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291641.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1488G>C",
"hgvs_p": "p.Gln496His",
"transcript": "ENST00000582717.5",
"protein_id": "ENSP00000462081.1",
"transcript_support_level": 2,
"aa_start": 496,
"aa_end": null,
"aa_length": 651,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582717.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1482G>C",
"hgvs_p": "p.Gln494His",
"transcript": "ENST00000878323.1",
"protein_id": "ENSP00000548382.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 649,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878323.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1488G>C",
"hgvs_p": "p.Gln496His",
"transcript": "ENST00000582486.5",
"protein_id": "ENSP00000462629.1",
"transcript_support_level": 5,
"aa_start": 496,
"aa_end": null,
"aa_length": 632,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582486.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1422G>C",
"hgvs_p": "p.Gln474His",
"transcript": "ENST00000924707.1",
"protein_id": "ENSP00000594766.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 629,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924707.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1341G>C",
"hgvs_p": "p.Gln447His",
"transcript": "ENST00000924698.1",
"protein_id": "ENSP00000594757.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 602,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924698.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.1338G>C",
"hgvs_p": "p.Gln446His",
"transcript": "NM_001291642.2",
"protein_id": "NP_001278571.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 601,
"cds_start": 1338,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_138619.4",
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"effects": [
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],
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],
"clinvar_disease": "not specified",
"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
}