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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: 1-236737167-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236737167&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 236737167,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001103.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Gln277Glu",
"transcript": "NM_001103.4",
"protein_id": "NP_001094.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 894,
"cds_start": 829,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366578.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001103.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Gln277Glu",
"transcript": "ENST00000366578.6",
"protein_id": "ENSP00000355537.4",
"transcript_support_level": 1,
"aa_start": 277,
"aa_end": null,
"aa_length": 894,
"cds_start": 829,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001103.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366578.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Gln277Glu",
"transcript": "ENST00000542672.7",
"protein_id": "ENSP00000443495.1",
"transcript_support_level": 1,
"aa_start": 277,
"aa_end": null,
"aa_length": 894,
"cds_start": 829,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542672.7"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Gln314Glu",
"transcript": "ENST00000879537.1",
"protein_id": "ENSP00000549596.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 931,
"cds_start": 940,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879537.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Gln314Glu",
"transcript": "ENST00000967370.1",
"protein_id": "ENSP00000637429.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 931,
"cds_start": 940,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967370.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.931C>G",
"hgvs_p": "p.Gln311Glu",
"transcript": "ENST00000967362.1",
"protein_id": "ENSP00000637421.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 928,
"cds_start": 931,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967362.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.919C>G",
"hgvs_p": "p.Gln307Glu",
"transcript": "ENST00000879533.1",
"protein_id": "ENSP00000549592.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 924,
"cds_start": 919,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879533.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Gln277Glu",
"transcript": "ENST00000967365.1",
"protein_id": "ENSP00000637424.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 909,
"cds_start": 829,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967365.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Gln277Glu",
"transcript": "ENST00000879532.1",
"protein_id": "ENSP00000549591.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 907,
"cds_start": 829,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879532.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Gln277Glu",
"transcript": "ENST00000967363.1",
"protein_id": "ENSP00000637422.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 905,
"cds_start": 829,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967363.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.841C>G",
"hgvs_p": "p.Gln281Glu",
"transcript": "ENST00000967352.1",
"protein_id": "ENSP00000637411.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 898,
"cds_start": 841,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967352.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Gln277Glu",
"transcript": "ENST00000879534.1",
"protein_id": "ENSP00000549593.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 895,
"cds_start": 829,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879534.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Gln277Glu",
"transcript": "NM_001278343.2",
"protein_id": "NP_001265272.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 894,
"cds_start": 829,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278343.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Gln277Glu",
"transcript": "ENST00000879538.1",
"protein_id": "ENSP00000549597.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 893,
"cds_start": 829,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879538.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Gln277Glu",
"transcript": "ENST00000967348.1",
"protein_id": "ENSP00000637407.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 892,
"cds_start": 829,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967348.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Gln277Glu",
"transcript": "ENST00000967355.1",
"protein_id": "ENSP00000637414.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 892,
"cds_start": 829,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967355.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.814C>G",
"hgvs_p": "p.Gln272Glu",
"transcript": "ENST00000967354.1",
"protein_id": "ENSP00000637413.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 889,
"cds_start": 814,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967354.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.811C>G",
"hgvs_p": "p.Gln271Glu",
"transcript": "ENST00000967356.1",
"protein_id": "ENSP00000637415.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 888,
"cds_start": 811,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967356.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Gln277Glu",
"transcript": "ENST00000879535.1",
"protein_id": "ENSP00000549594.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 887,
"cds_start": 829,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879535.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.799C>G",
"hgvs_p": "p.Gln267Glu",
"transcript": "ENST00000967357.1",
"protein_id": "ENSP00000637416.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 884,
"cds_start": 799,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967357.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Gln277Glu",
"transcript": "ENST00000879536.1",
"protein_id": "ENSP00000549595.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 881,
"cds_start": 829,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879536.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Gln277Glu",
"transcript": "ENST00000967360.1",
"protein_id": "ENSP00000637419.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 872,
"cds_start": 829,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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],
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],
"gene_symbol": "ACTN2",
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"dbsnp": "rs1553302181",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
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"gnomad_exomes_ac": 2,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5486660003662109,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.4,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2456,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.899,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001103.4",
"gene_symbol": "ACTN2",
"hgnc_id": 164,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Gln277Glu"
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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
}