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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: 3-101343688-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=101343688&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 101343688,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_020654.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2104C>A",
"hgvs_p": "p.Gln702Lys",
"transcript": "NM_020654.5",
"protein_id": "NP_065705.3",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2104,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": "ENST00000394095.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2104C>A",
"hgvs_p": "p.Gln702Lys",
"transcript": "ENST00000394095.7",
"protein_id": "ENSP00000377655.2",
"transcript_support_level": 1,
"aa_start": 702,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2104,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": "NM_020654.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2005C>A",
"hgvs_p": "p.Gln669Lys",
"transcript": "ENST00000348610.3",
"protein_id": "ENSP00000342159.3",
"transcript_support_level": 1,
"aa_start": 669,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2005,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.1909C>A",
"hgvs_p": "p.Gln637Lys",
"transcript": "ENST00000394094.6",
"protein_id": "ENSP00000377654.2",
"transcript_support_level": 1,
"aa_start": 637,
"aa_end": null,
"aa_length": 985,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 4703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.1906C>A",
"hgvs_p": "p.Gln636Lys",
"transcript": "ENST00000314261.11",
"protein_id": "ENSP00000313624.7",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 984,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.1612C>A",
"hgvs_p": "p.Gln538Lys",
"transcript": "ENST00000394091.5",
"protein_id": "ENSP00000377651.1",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 886,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 4434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2005C>A",
"hgvs_p": "p.Gln669Lys",
"transcript": "NM_001282802.2",
"protein_id": "NP_001269731.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2005,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 4923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.1909C>A",
"hgvs_p": "p.Gln637Lys",
"transcript": "NM_001077203.3",
"protein_id": "NP_001070671.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 985,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 1991,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.1906C>A",
"hgvs_p": "p.Gln636Lys",
"transcript": "NM_001282801.2",
"protein_id": "NP_001269730.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 984,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 1988,
"cdna_end": null,
"cdna_length": 4775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.1612C>A",
"hgvs_p": "p.Gln538Lys",
"transcript": "NM_001282803.2",
"protein_id": "NP_001269732.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 886,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 1743,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2107C>A",
"hgvs_p": "p.Gln703Lys",
"transcript": "XM_011513038.4",
"protein_id": "XP_011511340.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2107,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 2189,
"cdna_end": null,
"cdna_length": 4976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.1912C>A",
"hgvs_p": "p.Gln638Lys",
"transcript": "XM_011513040.4",
"protein_id": "XP_011511342.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 986,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.1909C>A",
"hgvs_p": "p.Gln637Lys",
"transcript": "XM_011513041.4",
"protein_id": "XP_011511343.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 985,
"cds_start": 1909,
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"cds_length": 2958,
"cdna_start": 1991,
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"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.1810C>A",
"hgvs_p": "p.Gln604Lys",
"transcript": "XM_017006926.2",
"protein_id": "XP_016862415.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 952,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 1941,
"cdna_end": null,
"cdna_length": 4728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.1714C>A",
"hgvs_p": "p.Gln572Lys",
"transcript": "XM_011513042.4",
"protein_id": "XP_011511344.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 920,
"cds_start": 1714,
"cds_end": null,
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"cdna_start": 1796,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.1711C>A",
"hgvs_p": "p.Gln571Lys",
"transcript": "XM_005247662.6",
"protein_id": "XP_005247719.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 919,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 4580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.1615C>A",
"hgvs_p": "p.Gln539Lys",
"transcript": "XM_047448627.1",
"protein_id": "XP_047304583.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 887,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 1746,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2107C>A",
"hgvs_p": "p.Gln703Lys",
"transcript": "XM_017006928.3",
"protein_id": "XP_016862417.1",
"transcript_support_level": null,
"aa_start": 703,
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"aa_length": 834,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2107C>A",
"hgvs_p": "p.Gln703Lys",
"transcript": "XM_047448628.1",
"protein_id": "XP_047304584.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
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"cds_start": 2107,
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"cdna_start": 2189,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "n.1923-1909C>A",
"hgvs_p": null,
"transcript": "XR_007095713.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "n.1920-1909C>A",
"hgvs_p": null,
"transcript": "XR_007095714.1",
"protein_id": null,
"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": 2156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"dbsnp": null,
"frequency_reference_population": 0.000001371744,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137174,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2191888988018036,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7680000066757202,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.141,
"revel_prediction": "Benign",
"alphamissense_score": 0.0845,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.401,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.718128984221105,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020654.5",
"gene_symbol": "SENP7",
"hgnc_id": 30402,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2104C>A",
"hgvs_p": "p.Gln702Lys"
}
],
"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
}