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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: 3-184170087-CG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184170087&ref=CG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 184170087,
"ref": "CG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_004423.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1585delG",
"hgvs_p": "p.Ala529fs",
"transcript": "NM_004423.4",
"protein_id": "NP_004414.3",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 716,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313143.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004423.4"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1585delG",
"hgvs_p": "p.Ala529fs",
"transcript": "ENST00000313143.9",
"protein_id": "ENSP00000316054.3",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 716,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004423.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313143.9"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1669delG",
"hgvs_p": "p.Ala557fs",
"transcript": "ENST00000867766.1",
"protein_id": "ENSP00000537825.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 744,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867766.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1615delG",
"hgvs_p": "p.Ala539fs",
"transcript": "ENST00000867764.1",
"protein_id": "ENSP00000537823.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 726,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867764.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1615delG",
"hgvs_p": "p.Ala539fs",
"transcript": "ENST00000945025.1",
"protein_id": "ENSP00000615084.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 726,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945025.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1603delG",
"hgvs_p": "p.Ala535fs",
"transcript": "ENST00000867765.1",
"protein_id": "ENSP00000537824.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 722,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867765.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1597delG",
"hgvs_p": "p.Ala533fs",
"transcript": "ENST00000945032.1",
"protein_id": "ENSP00000615091.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 720,
"cds_start": 1597,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945032.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1579delG",
"hgvs_p": "p.Ala527fs",
"transcript": "ENST00000921745.1",
"protein_id": "ENSP00000591804.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 714,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921745.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1579delG",
"hgvs_p": "p.Ala527fs",
"transcript": "ENST00000945031.1",
"protein_id": "ENSP00000615090.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 714,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945031.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1579delG",
"hgvs_p": "p.Ala527fs",
"transcript": "ENST00000945034.1",
"protein_id": "ENSP00000615093.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 714,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945034.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1567delG",
"hgvs_p": "p.Ala523fs",
"transcript": "ENST00000867760.1",
"protein_id": "ENSP00000537819.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 710,
"cds_start": 1567,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867760.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1564delG",
"hgvs_p": "p.Ala522fs",
"transcript": "ENST00000921743.1",
"protein_id": "ENSP00000591802.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 709,
"cds_start": 1564,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921743.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1543delG",
"hgvs_p": "p.Ala515fs",
"transcript": "ENST00000867762.1",
"protein_id": "ENSP00000537821.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 702,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867762.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1534delG",
"hgvs_p": "p.Ala512fs",
"transcript": "ENST00000431765.6",
"protein_id": "ENSP00000405885.1",
"transcript_support_level": 5,
"aa_start": 512,
"aa_end": null,
"aa_length": 699,
"cds_start": 1534,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431765.6"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1465delG",
"hgvs_p": "p.Ala489fs",
"transcript": "ENST00000945030.1",
"protein_id": "ENSP00000615089.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 676,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945030.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1453delG",
"hgvs_p": "p.Ala485fs",
"transcript": "ENST00000867759.1",
"protein_id": "ENSP00000537818.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 672,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867759.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1435delG",
"hgvs_p": "p.Ala479fs",
"transcript": "ENST00000867758.1",
"protein_id": "ENSP00000537817.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 666,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867758.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1435delG",
"hgvs_p": "p.Ala479fs",
"transcript": "ENST00000945028.1",
"protein_id": "ENSP00000615087.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 666,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945028.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1432delG",
"hgvs_p": "p.Ala478fs",
"transcript": "ENST00000945033.1",
"protein_id": "ENSP00000615092.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 665,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945033.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1417delG",
"hgvs_p": "p.Ala473fs",
"transcript": "ENST00000945026.1",
"protein_id": "ENSP00000615085.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 660,
"cds_start": 1417,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945026.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1414delG",
"hgvs_p": "p.Ala472fs",
"transcript": "ENST00000921744.1",
"protein_id": "ENSP00000591803.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 659,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921744.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL3",
"gene_hgnc_id": 3087,
"hgvs_c": "c.1303delG",
"hgvs_p": "p.Ala435fs",
"transcript": "ENST00000867763.1",
"protein_id": "ENSP00000537822.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 622,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867763.1"
},
{
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],
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"dbsnp": "rs869025215",
"frequency_reference_population": 6.84163e-7,
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"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84163e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": null,
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"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -2.418,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
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"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_004423.4",
"gene_symbol": "DVL3",
"hgnc_id": 3087,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.1585delG",
"hgvs_p": "p.Ala529fs"
}
],
"clinvar_disease": "Autosomal dominant Robinow syndrome 1,Autosomal dominant Robinow syndrome 2,Autosomal dominant Robinow syndrome 3",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1 O:1",
"phenotype_combined": "Autosomal dominant Robinow syndrome 1|Autosomal dominant Robinow syndrome 3|Autosomal dominant Robinow syndrome 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}