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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: 17-1467248-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=1467248&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 1467248,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001080779.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3159G>T",
"hgvs_p": "p.Leu1053Leu",
"transcript": "NM_001080779.2",
"protein_id": "NP_001074248.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1063,
"cds_start": 3159,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000648651.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080779.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3159G>T",
"hgvs_p": "p.Leu1053Leu",
"transcript": "ENST00000648651.1",
"protein_id": "ENSP00000496954.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1063,
"cds_start": 3159,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001080779.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648651.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3153G>T",
"hgvs_p": "p.Leu1051Leu",
"transcript": "ENST00000934819.1",
"protein_id": "ENSP00000604878.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1061,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934819.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3153G>T",
"hgvs_p": "p.Leu1051Leu",
"transcript": "ENST00000969312.1",
"protein_id": "ENSP00000639371.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1061,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969312.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3102G>T",
"hgvs_p": "p.Leu1034Leu",
"transcript": "NM_001080950.2",
"protein_id": "NP_001074419.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1044,
"cds_start": 3102,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080950.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3102G>T",
"hgvs_p": "p.Leu1034Leu",
"transcript": "ENST00000648446.1",
"protein_id": "ENSP00000496799.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1044,
"cds_start": 3102,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648446.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3087G>T",
"hgvs_p": "p.Leu1029Leu",
"transcript": "NM_001363855.1",
"protein_id": "NP_001350784.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1039,
"cds_start": 3087,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363855.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3087G>T",
"hgvs_p": "p.Leu1029Leu",
"transcript": "ENST00000545534.6",
"protein_id": "ENSP00000437685.2",
"transcript_support_level": 2,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1039,
"cds_start": 3087,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545534.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3078G>T",
"hgvs_p": "p.Leu1026Leu",
"transcript": "ENST00000904706.1",
"protein_id": "ENSP00000574765.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1036,
"cds_start": 3078,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904706.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3054G>T",
"hgvs_p": "p.Leu1018Leu",
"transcript": "NM_033375.5",
"protein_id": "NP_203693.3",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1028,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033375.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3054G>T",
"hgvs_p": "p.Leu1018Leu",
"transcript": "ENST00000361007.7",
"protein_id": "ENSP00000354283.2",
"transcript_support_level": 5,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1028,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361007.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3054G>T",
"hgvs_p": "p.Leu1018Leu",
"transcript": "ENST00000570984.7",
"protein_id": "ENSP00000459271.3",
"transcript_support_level": 5,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1028,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570984.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3054G>T",
"hgvs_p": "p.Leu1018Leu",
"transcript": "ENST00000575158.5",
"protein_id": "ENSP00000459174.1",
"transcript_support_level": 5,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1028,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575158.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3054G>T",
"hgvs_p": "p.Leu1018Leu",
"transcript": "ENST00000646049.1",
"protein_id": "ENSP00000493973.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1028,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646049.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3045G>T",
"hgvs_p": "p.Leu1015Leu",
"transcript": "ENST00000969313.1",
"protein_id": "ENSP00000639372.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1025,
"cds_start": 3045,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969313.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3054G>T",
"hgvs_p": "p.Leu1018Leu",
"transcript": "XM_024450768.2",
"protein_id": "XP_024306536.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1028,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450768.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3054G>T",
"hgvs_p": "p.Leu1018Leu",
"transcript": "XM_024450769.2",
"protein_id": "XP_024306537.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1028,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450769.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3054G>T",
"hgvs_p": "p.Leu1018Leu",
"transcript": "XM_047436133.1",
"protein_id": "XP_047292089.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1028,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436133.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3054G>T",
"hgvs_p": "p.Leu1018Leu",
"transcript": "XM_047436134.1",
"protein_id": "XP_047292090.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1028,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436134.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3054G>T",
"hgvs_p": "p.Leu1018Leu",
"transcript": "XM_047436136.1",
"protein_id": "XP_047292092.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1028,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436136.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.3054G>T",
"hgvs_p": "p.Leu1018Leu",
"transcript": "XM_047436137.1",
"protein_id": "XP_047292093.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1028,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436137.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "n.*243G>T",
"hgvs_p": null,
"transcript": "ENST00000574341.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000574341.1"
}
],
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"dbsnp": "rs2302458",
"frequency_reference_population": 0.096804984,
"hom_count_reference_population": 8060,
"allele_count_reference_population": 155996,
"gnomad_exomes_af": 0.0967368,
"gnomad_genomes_af": 0.0974583,
"gnomad_exomes_ac": 141157,
"gnomad_genomes_ac": 14839,
"gnomad_exomes_homalt": 7313,
"gnomad_genomes_homalt": 747,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.25999999046325684,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.653,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001080779.2",
"gene_symbol": "MYO1C",
"hgnc_id": 7597,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3159G>T",
"hgvs_p": "p.Leu1053Leu"
}
],
"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
}