← Back to variant description
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: 12-120465781-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120465781&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 120465781,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_003769.3",
"consequences": [
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "c.195A>G",
"hgvs_p": "p.Ala65Ala",
"transcript": "NM_003769.3",
"protein_id": "NP_003760.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 221,
"cds_start": 195,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000229390.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003769.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "c.195A>G",
"hgvs_p": "p.Ala65Ala",
"transcript": "ENST00000229390.8",
"protein_id": "ENSP00000229390.3",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 221,
"cds_start": 195,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003769.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229390.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "n.304A>G",
"hgvs_p": null,
"transcript": "ENST00000546942.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000546942.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "c.195A>G",
"hgvs_p": "p.Ala65Ala",
"transcript": "ENST00000957766.1",
"protein_id": "ENSP00000627825.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 221,
"cds_start": 195,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957766.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "c.195A>G",
"hgvs_p": "p.Ala65Ala",
"transcript": "ENST00000957767.1",
"protein_id": "ENSP00000627826.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 221,
"cds_start": 195,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957767.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "c.195A>G",
"hgvs_p": "p.Ala65Ala",
"transcript": "ENST00000957768.1",
"protein_id": "ENSP00000627827.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 221,
"cds_start": 195,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957768.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "c.195A>G",
"hgvs_p": "p.Ala65Ala",
"transcript": "ENST00000706467.1",
"protein_id": "ENSP00000516400.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 216,
"cds_start": 195,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706467.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "c.195A>G",
"hgvs_p": "p.Ala65Ala",
"transcript": "ENST00000863489.1",
"protein_id": "ENSP00000533548.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 196,
"cds_start": 195,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863489.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Ala38Ala",
"transcript": "ENST00000706466.1",
"protein_id": "ENSP00000516399.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 194,
"cds_start": 114,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706466.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "c.195A>G",
"hgvs_p": "p.Ala65Ala",
"transcript": "ENST00000863490.1",
"protein_id": "ENSP00000533549.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 191,
"cds_start": 195,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863490.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "c.96A>G",
"hgvs_p": "p.Ala32Ala",
"transcript": "ENST00000706469.1",
"protein_id": "ENSP00000516402.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 188,
"cds_start": 96,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706469.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "c.195A>G",
"hgvs_p": "p.Ala65Ala",
"transcript": "ENST00000914500.1",
"protein_id": "ENSP00000584559.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 182,
"cds_start": 195,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914500.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "c.195A>G",
"hgvs_p": "p.Ala65Ala",
"transcript": "ENST00000914501.1",
"protein_id": "ENSP00000584560.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 173,
"cds_start": 195,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914501.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "c.156A>G",
"hgvs_p": "p.Ala52Ala",
"transcript": "ENST00000550458.1",
"protein_id": "ENSP00000449030.1",
"transcript_support_level": 3,
"aa_start": 52,
"aa_end": null,
"aa_length": 107,
"cds_start": 156,
"cds_end": null,
"cds_length": 326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550458.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "n.195A>G",
"hgvs_p": null,
"transcript": "ENST00000603963.1",
"protein_id": "ENSP00000474283.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000603963.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "n.193A>G",
"hgvs_p": null,
"transcript": "ENST00000706464.1",
"protein_id": "ENSP00000516397.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000706464.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "n.195A>G",
"hgvs_p": null,
"transcript": "ENST00000706468.1",
"protein_id": "ENSP00000516401.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000706468.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "n.89A>G",
"hgvs_p": null,
"transcript": "ENST00000706470.1",
"protein_id": "ENSP00000516403.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000706470.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"hgvs_c": "n.189-2A>G",
"hgvs_p": null,
"transcript": "ENST00000706465.1",
"protein_id": "ENSP00000516398.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000706465.1"
}
],
"gene_symbol": "SRSF9",
"gene_hgnc_id": 10791,
"dbsnp": "rs534202070",
"frequency_reference_population": 0.00025360772,
"hom_count_reference_population": 3,
"allele_count_reference_population": 399,
"gnomad_exomes_af": 0.000264556,
"gnomad_genomes_af": 0.00015127,
"gnomad_exomes_ac": 376,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014999999664723873,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.015,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.14,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003769.3",
"gene_symbol": "SRSF9",
"hgnc_id": 10791,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.195A>G",
"hgvs_p": "p.Ala65Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}