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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: 6-107912725-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=107912725&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 107912725,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_007214.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC63",
"gene_hgnc_id": 21082,
"hgvs_c": "c.564C>G",
"hgvs_p": "p.Asn188Lys",
"transcript": "NM_007214.5",
"protein_id": "NP_009145.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 760,
"cds_start": 564,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369002.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007214.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC63",
"gene_hgnc_id": 21082,
"hgvs_c": "c.564C>G",
"hgvs_p": "p.Asn188Lys",
"transcript": "ENST00000369002.9",
"protein_id": "ENSP00000357998.4",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 760,
"cds_start": 564,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007214.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369002.9"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC63",
"gene_hgnc_id": 21082,
"hgvs_c": "c.651C>G",
"hgvs_p": "p.Asn217Lys",
"transcript": "ENST00000884697.1",
"protein_id": "ENSP00000554756.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 789,
"cds_start": 651,
"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": "ENST00000884697.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC63",
"gene_hgnc_id": 21082,
"hgvs_c": "c.645C>G",
"hgvs_p": "p.Asn215Lys",
"transcript": "ENST00000884696.1",
"protein_id": "ENSP00000554755.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 787,
"cds_start": 645,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884696.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC63",
"gene_hgnc_id": 21082,
"hgvs_c": "c.645C>G",
"hgvs_p": "p.Asn215Lys",
"transcript": "ENST00000955590.1",
"protein_id": "ENSP00000625649.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 786,
"cds_start": 645,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955590.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC63",
"gene_hgnc_id": 21082,
"hgvs_c": "c.564C>G",
"hgvs_p": "p.Asn188Lys",
"transcript": "ENST00000884693.1",
"protein_id": "ENSP00000554752.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 759,
"cds_start": 564,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884693.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC63",
"gene_hgnc_id": 21082,
"hgvs_c": "c.564C>G",
"hgvs_p": "p.Asn188Lys",
"transcript": "ENST00000938726.1",
"protein_id": "ENSP00000608785.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 743,
"cds_start": 564,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938726.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC63",
"gene_hgnc_id": 21082,
"hgvs_c": "c.564C>G",
"hgvs_p": "p.Asn188Lys",
"transcript": "ENST00000884694.1",
"protein_id": "ENSP00000554753.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 727,
"cds_start": 564,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884694.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC63",
"gene_hgnc_id": 21082,
"hgvs_c": "c.564C>G",
"hgvs_p": "p.Asn188Lys",
"transcript": "ENST00000938728.1",
"protein_id": "ENSP00000608787.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 702,
"cds_start": 564,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938728.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC63",
"gene_hgnc_id": 21082,
"hgvs_c": "c.336C>G",
"hgvs_p": "p.Asn112Lys",
"transcript": "ENST00000955591.1",
"protein_id": "ENSP00000625650.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 684,
"cds_start": 336,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955591.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC63",
"gene_hgnc_id": 21082,
"hgvs_c": "c.564C>G",
"hgvs_p": "p.Asn188Lys",
"transcript": "ENST00000884695.1",
"protein_id": "ENSP00000554754.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 673,
"cds_start": 564,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884695.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC63",
"gene_hgnc_id": 21082,
"hgvs_c": "c.564C>G",
"hgvs_p": "p.Asn188Lys",
"transcript": "ENST00000938727.1",
"protein_id": "ENSP00000608786.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 410,
"cds_start": 564,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938727.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC63",
"gene_hgnc_id": 21082,
"hgvs_c": "c.396C>G",
"hgvs_p": "p.Asn132Lys",
"transcript": "ENST00000429168.1",
"protein_id": "ENSP00000403144.1",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 160,
"cds_start": 396,
"cds_end": null,
"cds_length": 484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429168.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC63",
"gene_hgnc_id": 21082,
"hgvs_c": "c.396C>G",
"hgvs_p": "p.Asn132Lys",
"transcript": "XM_047418130.1",
"protein_id": "XP_047274086.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 704,
"cds_start": 396,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418130.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC63",
"gene_hgnc_id": 21082,
"hgvs_c": "c.144C>G",
"hgvs_p": "p.Asn48Lys",
"transcript": "XM_047418131.1",
"protein_id": "XP_047274087.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 620,
"cds_start": 144,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418131.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC63",
"gene_hgnc_id": 21082,
"hgvs_c": "n.486C>G",
"hgvs_p": null,
"transcript": "ENST00000484803.5",
"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": "ENST00000484803.5"
}
],
"gene_symbol": "SEC63",
"gene_hgnc_id": 21082,
"dbsnp": "rs675117",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6928898692131042,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.393,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9917,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.536,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007214.5",
"gene_symbol": "SEC63",
"hgnc_id": 21082,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.564C>G",
"hgvs_p": "p.Asn188Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}