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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: 1-236735682-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236735682&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 236735682,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001103.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Ile",
"transcript": "NM_001103.4",
"protein_id": "NP_001094.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 894,
"cds_start": 745,
"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": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Ile",
"transcript": "ENST00000366578.6",
"protein_id": "ENSP00000355537.4",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 894,
"cds_start": 745,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.783+1164G>A",
"hgvs_p": null,
"transcript": "ENST00000542672.7",
"protein_id": "ENSP00000443495.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": null,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Ile",
"transcript": "ENST00000879537.1",
"protein_id": "ENSP00000549596.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 931,
"cds_start": 745,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Ile",
"transcript": "ENST00000967362.1",
"protein_id": "ENSP00000637421.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 928,
"cds_start": 745,
"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": "V",
"aa_alt": "I",
"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.835G>A",
"hgvs_p": "p.Val279Ile",
"transcript": "ENST00000879533.1",
"protein_id": "ENSP00000549592.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 924,
"cds_start": 835,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Ile",
"transcript": "ENST00000967365.1",
"protein_id": "ENSP00000637424.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 909,
"cds_start": 745,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Ile",
"transcript": "ENST00000879532.1",
"protein_id": "ENSP00000549591.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 907,
"cds_start": 745,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Ile",
"transcript": "ENST00000967363.1",
"protein_id": "ENSP00000637422.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 905,
"cds_start": 745,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Val253Ile",
"transcript": "ENST00000967352.1",
"protein_id": "ENSP00000637411.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 898,
"cds_start": 757,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Ile",
"transcript": "ENST00000879534.1",
"protein_id": "ENSP00000549593.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 895,
"cds_start": 745,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Ile",
"transcript": "ENST00000879538.1",
"protein_id": "ENSP00000549597.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 893,
"cds_start": 745,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Ile",
"transcript": "ENST00000967348.1",
"protein_id": "ENSP00000637407.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 892,
"cds_start": 745,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Ile",
"transcript": "ENST00000967355.1",
"protein_id": "ENSP00000637414.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 892,
"cds_start": 745,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.730G>A",
"hgvs_p": "p.Val244Ile",
"transcript": "ENST00000967354.1",
"protein_id": "ENSP00000637413.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 889,
"cds_start": 730,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Ile",
"transcript": "ENST00000967356.1",
"protein_id": "ENSP00000637415.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 888,
"cds_start": 727,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Ile",
"transcript": "ENST00000879535.1",
"protein_id": "ENSP00000549594.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 887,
"cds_start": 745,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Ile",
"transcript": "ENST00000967357.1",
"protein_id": "ENSP00000637416.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 884,
"cds_start": 745,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Ile",
"transcript": "ENST00000879536.1",
"protein_id": "ENSP00000549595.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 881,
"cds_start": 745,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Ile",
"transcript": "ENST00000967360.1",
"protein_id": "ENSP00000637419.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 872,
"cds_start": 745,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967360.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Val220Ile",
"transcript": "ENST00000967359.1",
"protein_id": "ENSP00000637418.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 865,
"cds_start": 658,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967359.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Ile",
"transcript": "ENST00000682015.1",
"protein_id": "ENSP00000506961.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 863,
"cds_start": 745,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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],
"gene_symbol": "ACTN2",
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"dbsnp": "rs771260546",
"frequency_reference_population": 0.00001796738,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000177852,
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"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.35953062772750854,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.322,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.147,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.129,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001103.4",
"gene_symbol": "ACTN2",
"hgnc_id": 164,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Ile"
}
],
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Dilated cardiomyopathy 1AA,Primary familial hypertrophic cardiomyopathy,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:1",
"phenotype_combined": "not provided|Cardiovascular phenotype|Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy|not specified|Cardiomyopathy",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}