← 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: 2-65313808-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=65313808&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 65313808,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_181784.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.950A>T",
"hgvs_p": "p.Asn317Ile",
"transcript": "NM_181784.3",
"protein_id": "NP_861449.2",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 418,
"cds_start": 950,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": "ENST00000356388.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181784.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.950A>T",
"hgvs_p": "p.Asn317Ile",
"transcript": "ENST00000356388.9",
"protein_id": "ENSP00000348753.4",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 418,
"cds_start": 950,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": "NM_181784.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356388.9"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.995A>T",
"hgvs_p": "p.Asn332Ile",
"transcript": "ENST00000452315.5",
"protein_id": "ENSP00000390595.1",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 431,
"cds_start": 995,
"cds_end": null,
"cds_length": 1298,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 1365,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452315.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.941A>T",
"hgvs_p": "p.Asn314Ile",
"transcript": "NM_001128210.2",
"protein_id": "NP_001121682.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 415,
"cds_start": 941,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128210.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.941A>T",
"hgvs_p": "p.Asn314Ile",
"transcript": "ENST00000443619.6",
"protein_id": "ENSP00000393697.2",
"transcript_support_level": 2,
"aa_start": 314,
"aa_end": null,
"aa_length": 415,
"cds_start": 941,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443619.6"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.716A>T",
"hgvs_p": "p.Asn239Ile",
"transcript": "ENST00000931351.1",
"protein_id": "ENSP00000601410.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 340,
"cds_start": 716,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931351.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.596A>T",
"hgvs_p": "p.Asn199Ile",
"transcript": "ENST00000421087.5",
"protein_id": "ENSP00000407627.1",
"transcript_support_level": 3,
"aa_start": 199,
"aa_end": null,
"aa_length": 232,
"cds_start": 596,
"cds_end": null,
"cds_length": 701,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421087.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.890A>T",
"hgvs_p": "p.Asn297Ile",
"transcript": "XM_047443709.1",
"protein_id": "XP_047299665.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 398,
"cds_start": 890,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 6607,
"cdna_end": null,
"cdna_length": 9564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443709.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.581A>T",
"hgvs_p": "p.Asn194Ile",
"transcript": "XM_017003576.2",
"protein_id": "XP_016859065.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 295,
"cds_start": 581,
"cds_end": null,
"cds_length": 888,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 4007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003576.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.359A>T",
"hgvs_p": "p.Asn120Ile",
"transcript": "XM_047443711.1",
"protein_id": "XP_047299667.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 221,
"cds_start": 359,
"cds_end": null,
"cds_length": 666,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443711.1"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.588+2926A>T",
"hgvs_p": null,
"transcript": "XM_005264200.6",
"protein_id": "XP_005264257.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264200.6"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.579+2926A>T",
"hgvs_p": null,
"transcript": "XM_047443710.1",
"protein_id": "XP_047299666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443710.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.588+2926A>T",
"hgvs_p": null,
"transcript": "XM_005264202.6",
"protein_id": "XP_005264259.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264202.6"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.579+2926A>T",
"hgvs_p": null,
"transcript": "XM_047443712.1",
"protein_id": "XP_047299668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": null,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443712.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "n.*783A>T",
"hgvs_p": null,
"transcript": "ENST00000426832.2",
"protein_id": "ENSP00000414551.2",
"transcript_support_level": 3,
"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": 4709,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426832.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "n.*783A>T",
"hgvs_p": null,
"transcript": "ENST00000426832.2",
"protein_id": "ENSP00000414551.2",
"transcript_support_level": 3,
"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": 4709,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426832.2"
}
],
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"dbsnp": "rs936514564",
"frequency_reference_population": 0.0000020525563,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205256,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5701191425323486,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.317,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4067,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.139,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_181784.3",
"gene_symbol": "SPRED2",
"hgnc_id": 17722,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.950A>T",
"hgvs_p": "p.Asn317Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}