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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: 10-106607262-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=106607262&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 106607262,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000263054.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3069G>A",
"hgvs_p": "p.Ala1023Ala",
"transcript": "NM_052918.5",
"protein_id": "NP_443150.3",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3069,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 3249,
"cdna_end": null,
"cdna_length": 7444,
"mane_select": "ENST00000263054.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3069G>A",
"hgvs_p": "p.Ala1023Ala",
"transcript": "ENST00000263054.11",
"protein_id": "ENSP00000263054.5",
"transcript_support_level": 1,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3069,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 3249,
"cdna_end": null,
"cdna_length": 7444,
"mane_select": "NM_052918.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3069G>A",
"hgvs_p": "p.Ala1023Ala",
"transcript": "NM_001387556.1",
"protein_id": "NP_001374485.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1203,
"cds_start": 3069,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 3249,
"cdna_end": null,
"cdna_length": 4231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3069G>A",
"hgvs_p": "p.Ala1023Ala",
"transcript": "NM_001013031.3",
"protein_id": "NP_001013049.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1198,
"cds_start": 3069,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 3249,
"cdna_end": null,
"cdna_length": 7335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3069G>A",
"hgvs_p": "p.Ala1023Ala",
"transcript": "NM_001206569.2",
"protein_id": "NP_001193498.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1179,
"cds_start": 3069,
"cds_end": null,
"cds_length": 3540,
"cdna_start": 3249,
"cdna_end": null,
"cdna_length": 5616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3069G>A",
"hgvs_p": "p.Ala1023Ala",
"transcript": "NM_001206572.2",
"protein_id": "NP_001193501.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1179,
"cds_start": 3069,
"cds_end": null,
"cds_length": 3540,
"cdna_start": 3249,
"cdna_end": null,
"cdna_length": 7605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3069G>A",
"hgvs_p": "p.Ala1023Ala",
"transcript": "NM_001206571.2",
"protein_id": "NP_001193500.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3069,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 3249,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3069G>A",
"hgvs_p": "p.Ala1023Ala",
"transcript": "NM_001206570.2",
"protein_id": "NP_001193499.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1130,
"cds_start": 3069,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 3249,
"cdna_end": null,
"cdna_length": 7174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.1800G>A",
"hgvs_p": "p.Ala600Ala",
"transcript": "ENST00000369698.6",
"protein_id": "ENSP00000358712.2",
"transcript_support_level": 5,
"aa_start": 600,
"aa_end": null,
"aa_length": 756,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.111G>A",
"hgvs_p": "p.Ala37Ala",
"transcript": "ENST00000452214.5",
"protein_id": "ENSP00000407769.1",
"transcript_support_level": 3,
"aa_start": 37,
"aa_end": null,
"aa_length": 212,
"cds_start": 111,
"cds_end": null,
"cds_length": 639,
"cdna_start": 113,
"cdna_end": null,
"cdna_length": 663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3069G>A",
"hgvs_p": "p.Ala1023Ala",
"transcript": "XM_011539199.4",
"protein_id": "XP_011537501.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3069,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 3249,
"cdna_end": null,
"cdna_length": 7450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3069G>A",
"hgvs_p": "p.Ala1023Ala",
"transcript": "XM_011539201.4",
"protein_id": "XP_011537503.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1116,
"cds_start": 3069,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 3249,
"cdna_end": null,
"cdna_length": 11625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.2553G>A",
"hgvs_p": "p.Ala851Ala",
"transcript": "XM_017015616.2",
"protein_id": "XP_016871105.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2553,
"cds_end": null,
"cds_length": 3096,
"cdna_start": 2784,
"cdna_end": null,
"cdna_length": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.2514G>A",
"hgvs_p": "p.Ala838Ala",
"transcript": "XM_017015617.1",
"protein_id": "XP_016871106.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2514,
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"cdna_start": 2586,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.1638G>A",
"hgvs_p": "p.Ala546Ala",
"transcript": "XM_017015618.1",
"protein_id": "XP_016871107.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 726,
"cds_start": 1638,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 2724,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "n.275G>A",
"hgvs_p": null,
"transcript": "ENST00000478809.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3033+4649G>A",
"hgvs_p": null,
"transcript": "XM_017015615.3",
"protein_id": "XP_016871104.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1159,
"cds_start": -4,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
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"cdna_length": 4099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3033+4649G>A",
"hgvs_p": null,
"transcript": "XM_047424545.1",
"protein_id": "XP_047280501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1154,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
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"hgvs_c": "c.3033+4649G>A",
"hgvs_p": null,
"transcript": "XM_047424546.1",
"protein_id": "XP_047280502.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3033+4649G>A",
"hgvs_p": null,
"transcript": "XM_047424547.1",
"protein_id": "XP_047280503.1",
"transcript_support_level": null,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3033+4649G>A",
"hgvs_p": null,
"transcript": "XM_047424548.1",
"protein_id": "XP_047280504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1072,
"cds_start": -4,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "n.-44G>A",
"hgvs_p": null,
"transcript": "ENST00000473866.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"dbsnp": "rs7082289",
"frequency_reference_population": 0.11306658,
"hom_count_reference_population": 14820,
"allele_count_reference_population": 182463,
"gnomad_exomes_af": 0.108566,
"gnomad_genomes_af": 0.156323,
"gnomad_exomes_ac": 158690,
"gnomad_genomes_ac": 23773,
"gnomad_exomes_homalt": 12230,
"gnomad_genomes_homalt": 2590,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.314,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000263054.11",
"gene_symbol": "SORCS1",
"hgnc_id": 16697,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.3069G>A",
"hgvs_p": "p.Ala1023Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}