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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: 12-6529922-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6529922&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6529922,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_014865.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD2",
"gene_hgnc_id": 24305,
"hgvs_c": "c.3801A>T",
"hgvs_p": "p.Val1267Val",
"transcript": "NM_014865.4",
"protein_id": "NP_055680.3",
"transcript_support_level": null,
"aa_start": 1267,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3801,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 3877,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": "ENST00000315579.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014865.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD2",
"gene_hgnc_id": 24305,
"hgvs_c": "c.3801A>T",
"hgvs_p": "p.Val1267Val",
"transcript": "ENST00000315579.10",
"protein_id": "ENSP00000325017.5",
"transcript_support_level": 1,
"aa_start": 1267,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3801,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 3877,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": "NM_014865.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315579.10"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD2",
"gene_hgnc_id": 24305,
"hgvs_c": "c.3924A>T",
"hgvs_p": "p.Val1308Val",
"transcript": "ENST00000925386.1",
"protein_id": "ENSP00000595445.1",
"transcript_support_level": null,
"aa_start": 1308,
"aa_end": null,
"aa_length": 1442,
"cds_start": 3924,
"cds_end": null,
"cds_length": 4329,
"cdna_start": 4736,
"cdna_end": null,
"cdna_length": 5684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925386.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD2",
"gene_hgnc_id": 24305,
"hgvs_c": "c.3840A>T",
"hgvs_p": "p.Val1280Val",
"transcript": "ENST00000925390.1",
"protein_id": "ENSP00000595449.1",
"transcript_support_level": null,
"aa_start": 1280,
"aa_end": null,
"aa_length": 1414,
"cds_start": 3840,
"cds_end": null,
"cds_length": 4245,
"cdna_start": 4017,
"cdna_end": null,
"cdna_length": 4665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925390.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD2",
"gene_hgnc_id": 24305,
"hgvs_c": "c.3816A>T",
"hgvs_p": "p.Val1272Val",
"transcript": "ENST00000925383.1",
"protein_id": "ENSP00000595442.1",
"transcript_support_level": null,
"aa_start": 1272,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3816,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 4628,
"cdna_end": null,
"cdna_length": 5591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925383.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD2",
"gene_hgnc_id": 24305,
"hgvs_c": "c.3801A>T",
"hgvs_p": "p.Val1267Val",
"transcript": "ENST00000925389.1",
"protein_id": "ENSP00000595448.1",
"transcript_support_level": null,
"aa_start": 1267,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3801,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 3939,
"cdna_end": null,
"cdna_length": 4896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925389.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD2",
"gene_hgnc_id": 24305,
"hgvs_c": "c.3795A>T",
"hgvs_p": "p.Val1265Val",
"transcript": "ENST00000925387.1",
"protein_id": "ENSP00000595446.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3795,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 4595,
"cdna_end": null,
"cdna_length": 5550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925387.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD2",
"gene_hgnc_id": 24305,
"hgvs_c": "c.3792A>T",
"hgvs_p": "p.Val1264Val",
"transcript": "ENST00000925385.1",
"protein_id": "ENSP00000595444.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1398,
"cds_start": 3792,
"cds_end": null,
"cds_length": 4197,
"cdna_start": 4606,
"cdna_end": null,
"cdna_length": 5556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925385.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD2",
"gene_hgnc_id": 24305,
"hgvs_c": "c.3561A>T",
"hgvs_p": "p.Val1187Val",
"transcript": "ENST00000925384.1",
"protein_id": "ENSP00000595443.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3561,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 4369,
"cdna_end": null,
"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925384.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD2",
"gene_hgnc_id": 24305,
"hgvs_c": "c.3531A>T",
"hgvs_p": "p.Val1177Val",
"transcript": "ENST00000925388.1",
"protein_id": "ENSP00000595447.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3531,
"cds_end": null,
"cds_length": 3936,
"cdna_start": 4332,
"cdna_end": null,
"cdna_length": 5275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925388.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD2",
"gene_hgnc_id": 24305,
"hgvs_c": "n.*3496A>T",
"hgvs_p": null,
"transcript": "ENST00000539084.5",
"protein_id": "ENSP00000438495.1",
"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": 4290,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000539084.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "NCAPD2",
"gene_hgnc_id": 24305,
"hgvs_c": "n.482A>T",
"hgvs_p": null,
"transcript": "ENST00000539885.1",
"protein_id": null,
"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": 558,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000539885.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD2",
"gene_hgnc_id": 24305,
"hgvs_c": "n.*3496A>T",
"hgvs_p": null,
"transcript": "ENST00000539084.5",
"protein_id": "ENSP00000438495.1",
"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": 4290,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000539084.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GAPDH-DT",
"gene_hgnc_id": 55492,
"hgvs_c": "n.406+3542T>A",
"hgvs_p": null,
"transcript": "ENST00000732433.1",
"protein_id": null,
"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": 571,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000732433.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GAPDH-DT",
"gene_hgnc_id": 55492,
"hgvs_c": "n.129+3542T>A",
"hgvs_p": null,
"transcript": "ENST00000732434.1",
"protein_id": null,
"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": 432,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000732434.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GAPDH-DT",
"gene_hgnc_id": 55492,
"hgvs_c": "n.81+3542T>A",
"hgvs_p": null,
"transcript": "ENST00000732435.1",
"protein_id": null,
"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": 450,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000732435.1"
}
],
"gene_symbol": "NCAPD2",
"gene_hgnc_id": 24305,
"dbsnp": "rs1043262",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.7,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_014865.4",
"gene_symbol": "NCAPD2",
"hgnc_id": 24305,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.3801A>T",
"hgvs_p": "p.Val1267Val"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000732433.1",
"gene_symbol": "GAPDH-DT",
"hgnc_id": 55492,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.406+3542T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}