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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: 7-130023656-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=130023656&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 130023656,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000358303.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1088G>T",
"hgvs_p": "p.Arg363Leu",
"transcript": "NM_016478.5",
"protein_id": "NP_057562.3",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 502,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 1889,
"mane_select": "ENST00000358303.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1088G>T",
"hgvs_p": "p.Arg363Leu",
"transcript": "ENST00000358303.9",
"protein_id": "ENSP00000351052.4",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 502,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 1889,
"mane_select": "NM_016478.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.959G>T",
"hgvs_p": "p.Arg320Leu",
"transcript": "ENST00000481503.5",
"protein_id": "ENSP00000418533.1",
"transcript_support_level": 5,
"aa_start": 320,
"aa_end": null,
"aa_length": 459,
"cds_start": 959,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*972G>T",
"hgvs_p": null,
"transcript": "ENST00000467642.5",
"protein_id": "ENSP00000419509.1",
"transcript_support_level": 2,
"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": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1041G>T",
"hgvs_p": null,
"transcript": "ENST00000470651.2",
"protein_id": "ENSP00000420068.1",
"transcript_support_level": 4,
"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": 1998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*902G>T",
"hgvs_p": null,
"transcript": "ENST00000484432.2",
"protein_id": "ENSP00000417217.1",
"transcript_support_level": 4,
"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": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1098G>T",
"hgvs_p": null,
"transcript": "ENST00000648450.1",
"protein_id": "ENSP00000498166.1",
"transcript_support_level": null,
"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": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*972G>T",
"hgvs_p": null,
"transcript": "ENST00000467642.5",
"protein_id": "ENSP00000419509.1",
"transcript_support_level": 2,
"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": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1041G>T",
"hgvs_p": null,
"transcript": "ENST00000470651.2",
"protein_id": "ENSP00000420068.1",
"transcript_support_level": 4,
"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": 1998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*902G>T",
"hgvs_p": null,
"transcript": "ENST00000484432.2",
"protein_id": "ENSP00000417217.1",
"transcript_support_level": 4,
"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": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1098G>T",
"hgvs_p": null,
"transcript": "ENST00000648450.1",
"protein_id": "ENSP00000498166.1",
"transcript_support_level": null,
"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": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1088G>T",
"hgvs_p": "p.Arg363Leu",
"transcript": "ENST00000714105.1",
"protein_id": "ENSP00000519397.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 482,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1025G>T",
"hgvs_p": "p.Arg342Leu",
"transcript": "NM_001282190.2",
"protein_id": "NP_001269119.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 481,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.959G>T",
"hgvs_p": "p.Arg320Leu",
"transcript": "NM_001363701.1",
"protein_id": "NP_001350630.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 459,
"cds_start": 959,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.887G>T",
"hgvs_p": "p.Arg296Leu",
"transcript": "XM_011516288.4",
"protein_id": "XP_011514590.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 435,
"cds_start": 887,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.758G>T",
"hgvs_p": "p.Arg253Leu",
"transcript": "XM_047420453.1",
"protein_id": "XP_047276409.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 392,
"cds_start": 758,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.716G>T",
"hgvs_p": "p.Arg239Leu",
"transcript": "XM_005250403.4",
"protein_id": "XP_005250460.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 378,
"cds_start": 716,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.587G>T",
"hgvs_p": "p.Arg196Leu",
"transcript": "XM_047420454.1",
"protein_id": "XP_047276410.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 335,
"cds_start": 587,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 1514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.584G>T",
"hgvs_p": "p.Arg195Leu",
"transcript": "XM_011516290.3",
"protein_id": "XP_011514592.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 334,
"cds_start": 584,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 2961,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.584G>T",
"hgvs_p": "p.Arg195Leu",
"transcript": "XM_017012288.2",
"protein_id": "XP_016867777.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 334,
"cds_start": 584,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 1413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.758G>T",
"hgvs_p": null,
"transcript": "ENST00000477578.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*992G>T",
"hgvs_p": null,
"transcript": "ENST00000483827.2",
"protein_id": "ENSP00000417682.1",
"transcript_support_level": 5,
"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": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*655G>T",
"hgvs_p": null,
"transcript": "ENST00000714093.1",
"protein_id": "ENSP00000519386.1",
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}
],
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"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_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": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000358303.9",
"gene_symbol": "ZC3HC1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Arg363Leu"
},
{
"score": 2,
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"PM2"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000480018.1",
"gene_symbol": "UBE2H-DT",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.249-2593C>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}