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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: 10-106579195-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=106579195&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 106579195,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001387556.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3371+174T>G",
"hgvs_p": null,
"transcript": "NM_052918.5",
"protein_id": "NP_443150.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1168,
"cds_start": null,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263054.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052918.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3371+174T>G",
"hgvs_p": null,
"transcript": "ENST00000263054.11",
"protein_id": "ENSP00000263054.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1168,
"cds_start": null,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052918.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263054.11"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3428T>G",
"hgvs_p": "p.Met1143Arg",
"transcript": "NM_001387556.1",
"protein_id": "NP_001374485.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1203,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387556.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3428T>G",
"hgvs_p": "p.Met1143Arg",
"transcript": "NM_001013031.3",
"protein_id": "NP_001013049.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1198,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013031.3"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3428T>G",
"hgvs_p": "p.Met1143Arg",
"transcript": "NM_001206569.2",
"protein_id": "NP_001193498.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1179,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206569.2"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3428T>G",
"hgvs_p": "p.Met1143Arg",
"transcript": "NM_001206572.2",
"protein_id": "NP_001193501.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1179,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206572.2"
},
{
"aa_ref": "M",
"aa_alt": "R",
"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": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.2159T>G",
"hgvs_p": "p.Met720Arg",
"transcript": "ENST00000369698.6",
"protein_id": "ENSP00000358712.2",
"transcript_support_level": 5,
"aa_start": 720,
"aa_end": null,
"aa_length": 756,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369698.6"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.470T>G",
"hgvs_p": "p.Met157Arg",
"transcript": "ENST00000452214.5",
"protein_id": "ENSP00000407769.1",
"transcript_support_level": 3,
"aa_start": 157,
"aa_end": null,
"aa_length": 212,
"cds_start": 470,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452214.5"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3428T>G",
"hgvs_p": "p.Met1143Arg",
"transcript": "XM_011539199.4",
"protein_id": "XP_011537501.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539199.4"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3296T>G",
"hgvs_p": "p.Met1099Arg",
"transcript": "XM_017015615.3",
"protein_id": "XP_016871104.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3296,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015615.3"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3296T>G",
"hgvs_p": "p.Met1099Arg",
"transcript": "XM_047424545.1",
"protein_id": "XP_047280501.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3296,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424545.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3296T>G",
"hgvs_p": "p.Met1099Arg",
"transcript": "XM_047424546.1",
"protein_id": "XP_047280502.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1135,
"cds_start": 3296,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424546.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.2912T>G",
"hgvs_p": "p.Met971Arg",
"transcript": "XM_017015616.2",
"protein_id": "XP_016871105.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2912,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015616.2"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.2873T>G",
"hgvs_p": "p.Met958Arg",
"transcript": "XM_017015617.1",
"protein_id": "XP_016871106.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2873,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015617.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"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": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.1997T>G",
"hgvs_p": "p.Met666Arg",
"transcript": "XM_017015618.1",
"protein_id": "XP_016871107.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 726,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015618.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.*65T>G",
"hgvs_p": null,
"transcript": "NM_001206571.2",
"protein_id": "NP_001193500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1159,
"cds_start": null,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206571.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3371+174T>G",
"hgvs_p": null,
"transcript": "NM_001206570.2",
"protein_id": "NP_001193499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1130,
"cds_start": null,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206570.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "c.3239+174T>G",
"hgvs_p": null,
"transcript": "XM_047424547.1",
"protein_id": "XP_047280503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1124,
"cds_start": null,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424547.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"hgvs_c": "n.316T>G",
"hgvs_p": null,
"transcript": "ENST00000473866.1",
"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": "ENST00000473866.1"
}
],
"gene_symbol": "SORCS1",
"gene_hgnc_id": 16697,
"dbsnp": "rs765939027",
"frequency_reference_population": 0.000036555684,
"hom_count_reference_population": 0,
"allele_count_reference_population": 59,
"gnomad_exomes_af": 0.0000396759,
"gnomad_genomes_af": 0.00000657324,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19815289974212646,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.251,
"revel_prediction": "Benign",
"alphamissense_score": 0.3791,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.158,
"phylop100way_prediction": "Uncertain_significance",
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001387556.1",
"gene_symbol": "SORCS1",
"hgnc_id": 16697,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.3428T>G",
"hgvs_p": "p.Met1143Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}