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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: 1-1668441-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1668441&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1668441,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001110781.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35E2B",
"gene_hgnc_id": 33941,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Ser289Asn",
"transcript": "NM_001290264.2",
"protein_id": "NP_001277193.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 405,
"cds_start": 866,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000617444.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290264.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35E2B",
"gene_hgnc_id": 33941,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Ser289Asn",
"transcript": "ENST00000617444.5",
"protein_id": "ENSP00000481694.1",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 405,
"cds_start": 866,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001290264.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617444.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35E2B",
"gene_hgnc_id": 33941,
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Glu206Glu",
"transcript": "ENST00000614300.4",
"protein_id": "ENSP00000478733.1",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 246,
"cds_start": 618,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614300.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35E2B",
"gene_hgnc_id": 33941,
"hgvs_c": "c.1031G>A",
"hgvs_p": "p.Ser344Asn",
"transcript": "ENST00000911900.1",
"protein_id": "ENSP00000581959.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 460,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911900.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35E2B",
"gene_hgnc_id": 33941,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Ser289Asn",
"transcript": "NM_001110781.3",
"protein_id": "NP_001104251.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 405,
"cds_start": 866,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001110781.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35E2B",
"gene_hgnc_id": 33941,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Ser289Asn",
"transcript": "ENST00000611123.1",
"protein_id": "ENSP00000484635.1",
"transcript_support_level": 2,
"aa_start": 289,
"aa_end": null,
"aa_length": 405,
"cds_start": 866,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611123.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35E2B",
"gene_hgnc_id": 33941,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Ser289Asn",
"transcript": "ENST00000904337.1",
"protein_id": "ENSP00000574396.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 405,
"cds_start": 866,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904337.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35E2B",
"gene_hgnc_id": 33941,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Ser289Asn",
"transcript": "ENST00000904338.1",
"protein_id": "ENSP00000574397.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 405,
"cds_start": 866,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904338.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35E2B",
"gene_hgnc_id": 33941,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Ser289Asn",
"transcript": "ENST00000904339.1",
"protein_id": "ENSP00000574398.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 405,
"cds_start": 866,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904339.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35E2B",
"gene_hgnc_id": 33941,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Ser289Asn",
"transcript": "ENST00000904340.1",
"protein_id": "ENSP00000574399.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 405,
"cds_start": 866,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904340.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35E2B",
"gene_hgnc_id": 33941,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Ser289Asn",
"transcript": "ENST00000911898.1",
"protein_id": "ENSP00000581957.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 405,
"cds_start": 866,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911898.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35E2B",
"gene_hgnc_id": 33941,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Ser289Asn",
"transcript": "ENST00000911901.1",
"protein_id": "ENSP00000581960.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 405,
"cds_start": 866,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911901.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35E2B",
"gene_hgnc_id": 33941,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Ser289Asn",
"transcript": "ENST00000956985.1",
"protein_id": "ENSP00000627044.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 405,
"cds_start": 866,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956985.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35E2B",
"gene_hgnc_id": 33941,
"hgvs_c": "c.806G>A",
"hgvs_p": "p.Ser269Asn",
"transcript": "ENST00000904336.1",
"protein_id": "ENSP00000574395.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 385,
"cds_start": 806,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904336.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35E2B",
"gene_hgnc_id": 33941,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Ser250Asn",
"transcript": "ENST00000911899.1",
"protein_id": "ENSP00000581958.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 366,
"cds_start": 749,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911899.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35E2B",
"gene_hgnc_id": 33941,
"hgvs_c": "n.508G>A",
"hgvs_p": null,
"transcript": "ENST00000480991.1",
"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": "ENST00000480991.1"
}
],
"gene_symbol": "SLC35E2B",
"gene_hgnc_id": 33941,
"dbsnp": "rs750547118",
"frequency_reference_population": 0.00005206164,
"hom_count_reference_population": 0,
"allele_count_reference_population": 84,
"gnomad_exomes_af": 0.0000554143,
"gnomad_genomes_af": 0.0000197686,
"gnomad_exomes_ac": 81,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26078465580940247,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.135,
"revel_prediction": "Benign",
"alphamissense_score": 0.0842,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.188,
"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_001110781.3",
"gene_symbol": "SLC35E2B",
"hgnc_id": 33941,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Ser289Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}