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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: 14-39040836-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=39040836&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 39040836,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006364.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2038A>G",
"hgvs_p": "p.Asn680Asp",
"transcript": "NM_006364.4",
"protein_id": "NP_006355.2",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 765,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307712.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006364.4"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2038A>G",
"hgvs_p": "p.Asn680Asp",
"transcript": "ENST00000307712.11",
"protein_id": "ENSP00000306881.6",
"transcript_support_level": 1,
"aa_start": 680,
"aa_end": null,
"aa_length": 765,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006364.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307712.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "n.598A>G",
"hgvs_p": null,
"transcript": "ENST00000554615.1",
"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": "ENST00000554615.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2110A>G",
"hgvs_p": "p.Asn704Asp",
"transcript": "ENST00000857742.1",
"protein_id": "ENSP00000527801.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 789,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857742.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2038A>G",
"hgvs_p": "p.Asn680Asp",
"transcript": "ENST00000857743.1",
"protein_id": "ENSP00000527802.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 765,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857743.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2038A>G",
"hgvs_p": "p.Asn680Asp",
"transcript": "ENST00000919376.1",
"protein_id": "ENSP00000589435.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 765,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919376.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2038A>G",
"hgvs_p": "p.Asn680Asp",
"transcript": "ENST00000945648.1",
"protein_id": "ENSP00000615707.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 765,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945648.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2038A>G",
"hgvs_p": "p.Asn680Asp",
"transcript": "ENST00000945650.1",
"protein_id": "ENSP00000615709.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 764,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945650.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.1978A>G",
"hgvs_p": "p.Asn660Asp",
"transcript": "ENST00000857741.1",
"protein_id": "ENSP00000527800.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 745,
"cds_start": 1978,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857741.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.1957A>G",
"hgvs_p": "p.Asn653Asp",
"transcript": "ENST00000945652.1",
"protein_id": "ENSP00000615711.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 738,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945652.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.1951A>G",
"hgvs_p": "p.Asn651Asp",
"transcript": "ENST00000545328.6",
"protein_id": "ENSP00000445393.2",
"transcript_support_level": 2,
"aa_start": 651,
"aa_end": null,
"aa_length": 736,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545328.6"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.1948A>G",
"hgvs_p": "p.Asn650Asp",
"transcript": "ENST00000945651.1",
"protein_id": "ENSP00000615710.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 735,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945651.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.1609A>G",
"hgvs_p": "p.Asn537Asp",
"transcript": "ENST00000857740.1",
"protein_id": "ENSP00000527799.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 622,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857740.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.1432A>G",
"hgvs_p": "p.Asn478Asp",
"transcript": "ENST00000537403.5",
"protein_id": "ENSP00000444193.1",
"transcript_support_level": 2,
"aa_start": 478,
"aa_end": null,
"aa_length": 563,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537403.5"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.1009A>G",
"hgvs_p": "p.Asn337Asp",
"transcript": "ENST00000945649.1",
"protein_id": "ENSP00000615708.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 422,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945649.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2110A>G",
"hgvs_p": "p.Asn704Asp",
"transcript": "XM_005267262.2",
"protein_id": "XP_005267319.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 789,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267262.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2110A>G",
"hgvs_p": "p.Asn704Asp",
"transcript": "XM_011536355.4",
"protein_id": "XP_011534657.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 772,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536355.4"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2038A>G",
"hgvs_p": "p.Asn680Asp",
"transcript": "XM_017020928.3",
"protein_id": "XP_016876417.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 748,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020928.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "n.409A>G",
"hgvs_p": null,
"transcript": "ENST00000555363.1",
"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": "ENST00000555363.1"
}
],
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"dbsnp": "rs200050093",
"frequency_reference_population": 0.00032774534,
"hom_count_reference_population": 0,
"allele_count_reference_population": 529,
"gnomad_exomes_af": 0.000352286,
"gnomad_genomes_af": 0.0000919987,
"gnomad_exomes_ac": 515,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6514195203781128,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.272,
"revel_prediction": "Benign",
"alphamissense_score": 0.7179,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.86,
"phylop100way_prediction": "Pathogenic",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_006364.4",
"gene_symbol": "SEC23A",
"hgnc_id": 10701,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.2038A>G",
"hgvs_p": "p.Asn680Asp"
}
],
"clinvar_disease": "Craniolenticulosutural dysplasia,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Craniolenticulosutural dysplasia|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}