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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: 13-75288980-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=75288980&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 75288980,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014832.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3617A>G",
"hgvs_p": "p.Asn1206Ser",
"transcript": "NM_014832.5",
"protein_id": "NP_055647.2",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3617,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 4019,
"cdna_end": null,
"cdna_length": 7588,
"mane_select": "ENST00000377636.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014832.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3617A>G",
"hgvs_p": "p.Asn1206Ser",
"transcript": "ENST00000377636.8",
"protein_id": "ENSP00000366863.3",
"transcript_support_level": 2,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3617,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 4019,
"cdna_end": null,
"cdna_length": 7588,
"mane_select": "NM_014832.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377636.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3593A>G",
"hgvs_p": "p.Asn1198Ser",
"transcript": "ENST00000431480.6",
"protein_id": "ENSP00000395986.2",
"transcript_support_level": 1,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3593,
"cds_end": null,
"cds_length": 3873,
"cdna_start": 3940,
"cdna_end": null,
"cdna_length": 6347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431480.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3428A>G",
"hgvs_p": "p.Asn1143Ser",
"transcript": "ENST00000377625.6",
"protein_id": "ENSP00000366852.2",
"transcript_support_level": 1,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3775,
"cdna_end": null,
"cdna_length": 6182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377625.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3593A>G",
"hgvs_p": "p.Asn1198Ser",
"transcript": "NM_001286658.2",
"protein_id": "NP_001273587.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3593,
"cds_end": null,
"cds_length": 3873,
"cdna_start": 3994,
"cdna_end": null,
"cdna_length": 6402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286658.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3542A>G",
"hgvs_p": "p.Asn1181Ser",
"transcript": "ENST00000954256.1",
"protein_id": "ENSP00000624315.1",
"transcript_support_level": null,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3542,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 4281,
"cdna_end": null,
"cdna_length": 6681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954256.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3452A>G",
"hgvs_p": "p.Asn1151Ser",
"transcript": "ENST00000954257.1",
"protein_id": "ENSP00000624316.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3452,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 4010,
"cdna_end": null,
"cdna_length": 6406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954257.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3431A>G",
"hgvs_p": "p.Asn1144Ser",
"transcript": "ENST00000954258.1",
"protein_id": "ENSP00000624317.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3431,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 3824,
"cdna_end": null,
"cdna_length": 6222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954258.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3428A>G",
"hgvs_p": "p.Asn1143Ser",
"transcript": "NM_001286659.2",
"protein_id": "NP_001273588.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3829,
"cdna_end": null,
"cdna_length": 6237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286659.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3353A>G",
"hgvs_p": "p.Asn1118Ser",
"transcript": "ENST00000954254.1",
"protein_id": "ENSP00000624313.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3353,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 4237,
"cdna_end": null,
"cdna_length": 6636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954254.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3317A>G",
"hgvs_p": "p.Asn1106Ser",
"transcript": "ENST00000881333.1",
"protein_id": "ENSP00000551392.1",
"transcript_support_level": null,
"aa_start": 1106,
"aa_end": null,
"aa_length": 1198,
"cds_start": 3317,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 4037,
"cdna_end": null,
"cdna_length": 6436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881333.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.2891A>G",
"hgvs_p": "p.Asn964Ser",
"transcript": "ENST00000954255.1",
"protein_id": "ENSP00000624314.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2891,
"cds_end": null,
"cds_length": 3171,
"cdna_start": 3773,
"cdna_end": null,
"cdna_length": 6172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954255.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.2885A>G",
"hgvs_p": "p.Asn962Ser",
"transcript": "ENST00000648194.1",
"protein_id": "ENSP00000496983.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1054,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 6656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648194.1"
},
{
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"aa_alt": "S",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3542A>G",
"hgvs_p": "p.Asn1181Ser",
"transcript": "XM_005266603.3",
"protein_id": "XP_005266660.1",
"transcript_support_level": null,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3542,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3944,
"cdna_end": null,
"cdna_length": 7513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266603.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3518A>G",
"hgvs_p": "p.Asn1173Ser",
"transcript": "XM_047430808.1",
"protein_id": "XP_047286764.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3518,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 3920,
"cdna_end": null,
"cdna_length": 7489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430808.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3506A>G",
"hgvs_p": "p.Asn1169Ser",
"transcript": "XM_011535331.3",
"protein_id": "XP_011533633.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3506,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 3908,
"cdna_end": null,
"cdna_length": 7477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535331.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3353A>G",
"hgvs_p": "p.Asn1118Ser",
"transcript": "XM_047430809.1",
"protein_id": "XP_047286765.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3353,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 3755,
"cdna_end": null,
"cdna_length": 7324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430809.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3317A>G",
"hgvs_p": "p.Asn1106Ser",
"transcript": "XM_047430810.1",
"protein_id": "XP_047286766.1",
"transcript_support_level": null,
"aa_start": 1106,
"aa_end": null,
"aa_length": 1198,
"cds_start": 3317,
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"cdna_start": 3719,
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"cdna_length": 7288,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047430810.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3242A>G",
"hgvs_p": "p.Asn1081Ser",
"transcript": "XM_047430811.1",
"protein_id": "XP_047286767.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3242,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 3644,
"cdna_end": null,
"cdna_length": 7213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430811.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3143A>G",
"hgvs_p": "p.Asn1048Ser",
"transcript": "XM_006719903.4",
"protein_id": "XP_006719966.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3143,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 10860,
"cdna_end": null,
"cdna_length": 14429,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719903.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.1268A>G",
"hgvs_p": "p.Asn423Ser",
"transcript": "XM_047430812.1",
"protein_id": "XP_047286768.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 515,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 5316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430812.1"
}
],
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"dbsnp": "rs76851570",
"frequency_reference_population": 0.015132965,
"hom_count_reference_population": 251,
"allele_count_reference_population": 24424,
"gnomad_exomes_af": 0.0156392,
"gnomad_genomes_af": 0.0102748,
"gnomad_exomes_ac": 22859,
"gnomad_genomes_ac": 1565,
"gnomad_exomes_homalt": 236,
"gnomad_genomes_homalt": 15,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005423158407211304,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.324,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2688,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.608,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_014832.5",
"gene_symbol": "TBC1D4",
"hgnc_id": 19165,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3617A>G",
"hgvs_p": "p.Asn1206Ser"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}