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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: 7-152177004-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=152177004&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 152177004,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000262189.11",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.8449A>C",
"hgvs_p": "p.Thr2817Pro",
"transcript": "NM_170606.3",
"protein_id": "NP_733751.2",
"transcript_support_level": null,
"aa_start": 2817,
"aa_end": null,
"aa_length": 4911,
"cds_start": 8449,
"cds_end": null,
"cds_length": 14736,
"cdna_start": 8666,
"cdna_end": null,
"cdna_length": 16860,
"mane_select": "ENST00000262189.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.8449A>C",
"hgvs_p": "p.Thr2817Pro",
"transcript": "ENST00000262189.11",
"protein_id": "ENSP00000262189.6",
"transcript_support_level": 1,
"aa_start": 2817,
"aa_end": null,
"aa_length": 4911,
"cds_start": 8449,
"cds_end": null,
"cds_length": 14736,
"cdna_start": 8666,
"cdna_end": null,
"cdna_length": 16860,
"mane_select": "NM_170606.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.4069A>C",
"hgvs_p": "p.Thr1357Pro",
"transcript": "ENST00000360104.8",
"protein_id": "ENSP00000353218.4",
"transcript_support_level": 1,
"aa_start": 1357,
"aa_end": null,
"aa_length": 3475,
"cds_start": 4069,
"cds_end": null,
"cds_length": 10428,
"cdna_start": 4071,
"cdna_end": null,
"cdna_length": 14292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.6160A>C",
"hgvs_p": null,
"transcript": "ENST00000473186.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 12854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.8449A>C",
"hgvs_p": "p.Thr2817Pro",
"transcript": "ENST00000682283.1",
"protein_id": "ENSP00000507485.1",
"transcript_support_level": null,
"aa_start": 2817,
"aa_end": null,
"aa_length": 4968,
"cds_start": 8449,
"cds_end": null,
"cds_length": 14907,
"cdna_start": 8449,
"cdna_end": null,
"cdna_length": 15426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.8224A>C",
"hgvs_p": "p.Thr2742Pro",
"transcript": "ENST00000679882.1",
"protein_id": "ENSP00000506154.1",
"transcript_support_level": null,
"aa_start": 2742,
"aa_end": null,
"aa_length": 4762,
"cds_start": 8224,
"cds_end": null,
"cds_length": 14289,
"cdna_start": 8374,
"cdna_end": null,
"cdna_length": 14469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.5797A>C",
"hgvs_p": "p.Thr1933Pro",
"transcript": "ENST00000683200.1",
"protein_id": "ENSP00000508052.1",
"transcript_support_level": null,
"aa_start": 1933,
"aa_end": null,
"aa_length": 4054,
"cds_start": 5797,
"cds_end": null,
"cds_length": 12165,
"cdna_start": 5797,
"cdna_end": null,
"cdna_length": 15972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.3184A>C",
"hgvs_p": "p.Thr1062Pro",
"transcript": "ENST00000680877.1",
"protein_id": "ENSP00000505724.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 3211,
"cds_start": 3184,
"cds_end": null,
"cds_length": 9636,
"cdna_start": 3184,
"cdna_end": null,
"cdna_length": 11540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.3184A>C",
"hgvs_p": "p.Thr1062Pro",
"transcript": "ENST00000679560.1",
"protein_id": "ENSP00000505094.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 3207,
"cds_start": 3184,
"cds_end": null,
"cds_length": 9624,
"cdna_start": 3184,
"cdna_end": null,
"cdna_length": 11523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.3184A>C",
"hgvs_p": "p.Thr1062Pro",
"transcript": "ENST00000684261.1",
"protein_id": "ENSP00000508097.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 3206,
"cds_start": 3184,
"cds_end": null,
"cds_length": 9621,
"cdna_start": 3184,
"cdna_end": null,
"cdna_length": 10473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.5845A>C",
"hgvs_p": "p.Thr1949Pro",
"transcript": "ENST00000680969.1",
"protein_id": "ENSP00000505951.1",
"transcript_support_level": null,
"aa_start": 1949,
"aa_end": null,
"aa_length": 2951,
"cds_start": 5845,
"cds_end": null,
"cds_length": 8856,
"cdna_start": 5845,
"cdna_end": null,
"cdna_length": 8856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.7147A>C",
"hgvs_p": "p.Thr2383Pro",
"transcript": "ENST00000681033.1",
"protein_id": "ENSP00000505058.1",
"transcript_support_level": null,
"aa_start": 2383,
"aa_end": null,
"aa_length": 2716,
"cds_start": 7147,
"cds_end": null,
"cds_length": 8151,
"cdna_start": 7147,
"cdna_end": null,
"cdna_length": 8151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.3184A>C",
"hgvs_p": "p.Thr1062Pro",
"transcript": "ENST00000683670.1",
"protein_id": "ENSP00000507634.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 2151,
"cds_start": 3184,
"cds_end": null,
"cds_length": 6456,
"cdna_start": 3184,
"cdna_end": null,
"cdna_length": 6456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.3184A>C",
"hgvs_p": "p.Thr1062Pro",
"transcript": "ENST00000684398.1",
"protein_id": "ENSP00000507254.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 2102,
"cds_start": 3184,
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"cds_length": 6309,
"cdna_start": 3184,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.5167A>C",
"hgvs_p": "p.Thr1723Pro",
"transcript": "ENST00000682176.1",
"protein_id": "ENSP00000507665.1",
"transcript_support_level": null,
"aa_start": 1723,
"aa_end": null,
"aa_length": 2056,
"cds_start": 5167,
"cds_end": null,
"cds_length": 6171,
"cdna_start": 5168,
"cdna_end": null,
"cdna_length": 6172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.3184A>C",
"hgvs_p": "p.Thr1062Pro",
"transcript": "ENST00000683625.1",
"protein_id": "ENSP00000507769.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1960,
"cds_start": 3184,
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"cds_length": 5883,
"cdna_start": 3184,
"cdna_end": null,
"cdna_length": 5883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.3757A>C",
"hgvs_p": "p.Thr1253Pro",
"transcript": "ENST00000683159.1",
"protein_id": "ENSP00000507142.1",
"transcript_support_level": null,
"aa_start": 1253,
"aa_end": null,
"aa_length": 1586,
"cds_start": 3757,
"cds_end": null,
"cds_length": 4761,
"cdna_start": 3759,
"cdna_end": null,
"cdna_length": 4763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.1738A>C",
"hgvs_p": "p.Thr580Pro",
"transcript": "ENST00000558665.2",
"protein_id": "ENSP00000454058.2",
"transcript_support_level": 3,
"aa_start": 580,
"aa_end": null,
"aa_length": 913,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.1940A>C",
"hgvs_p": null,
"transcript": "ENST00000679393.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 11300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.435A>C",
"hgvs_p": null,
"transcript": "ENST00000683120.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 11814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.3184A>C",
"hgvs_p": null,
"transcript": "ENST00000683397.1",
"protein_id": "ENSP00000507053.1",
"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": 6428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.3184A>C",
"hgvs_p": null,
"transcript": "ENST00000684307.1",
"protein_id": "ENSP00000507202.1",
"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": 6341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.*4542A>C",
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}
],
"gene_symbol": "KMT2C",
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"dbsnp": "rs587778499",
"frequency_reference_population": 6.8407877e-7,
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"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84079e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.051836222410202026,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.193,
"revel_prediction": "Benign",
"alphamissense_score": 0.0772,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.636,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000262189.11",
"gene_symbol": "KMT2C",
"hgnc_id": 13726,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.8449A>C",
"hgvs_p": "p.Thr2817Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}