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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: 20-5558005-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=5558005&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 5558005,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_019593.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPCPD1",
"gene_hgnc_id": 26957,
"hgvs_c": "c.1769A>G",
"hgvs_p": "p.Asn590Ser",
"transcript": "NM_019593.5",
"protein_id": "NP_062539.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 672,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 5434,
"mane_select": "ENST00000379019.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019593.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPCPD1",
"gene_hgnc_id": 26957,
"hgvs_c": "c.1769A>G",
"hgvs_p": "p.Asn590Ser",
"transcript": "ENST00000379019.7",
"protein_id": "ENSP00000368305.4",
"transcript_support_level": 1,
"aa_start": 590,
"aa_end": null,
"aa_length": 672,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 5434,
"mane_select": "NM_019593.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379019.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPCPD1",
"gene_hgnc_id": 26957,
"hgvs_c": "c.1769A>G",
"hgvs_p": "p.Asn590Ser",
"transcript": "ENST00000718343.1",
"protein_id": "ENSP00000520780.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 672,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 5469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718343.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPCPD1",
"gene_hgnc_id": 26957,
"hgvs_c": "c.1769A>G",
"hgvs_p": "p.Asn590Ser",
"transcript": "ENST00000873924.1",
"protein_id": "ENSP00000543983.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 672,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873924.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPCPD1",
"gene_hgnc_id": 26957,
"hgvs_c": "c.1769A>G",
"hgvs_p": "p.Asn590Ser",
"transcript": "ENST00000873926.1",
"protein_id": "ENSP00000543985.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 672,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2076,
"cdna_end": null,
"cdna_length": 3345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873926.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPCPD1",
"gene_hgnc_id": 26957,
"hgvs_c": "c.1769A>G",
"hgvs_p": "p.Asn590Ser",
"transcript": "ENST00000873927.1",
"protein_id": "ENSP00000543986.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 672,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873927.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPCPD1",
"gene_hgnc_id": 26957,
"hgvs_c": "c.1769A>G",
"hgvs_p": "p.Asn590Ser",
"transcript": "ENST00000922545.1",
"protein_id": "ENSP00000592604.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 672,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 5509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922545.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPCPD1",
"gene_hgnc_id": 26957,
"hgvs_c": "c.1769A>G",
"hgvs_p": "p.Asn590Ser",
"transcript": "ENST00000959744.1",
"protein_id": "ENSP00000629803.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 672,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2041,
"cdna_end": null,
"cdna_length": 5511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959744.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPCPD1",
"gene_hgnc_id": 26957,
"hgvs_c": "c.1769A>G",
"hgvs_p": "p.Asn590Ser",
"transcript": "ENST00000959745.1",
"protein_id": "ENSP00000629804.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 672,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2268,
"cdna_end": null,
"cdna_length": 5736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959745.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPCPD1",
"gene_hgnc_id": 26957,
"hgvs_c": "c.1769A>G",
"hgvs_p": "p.Asn590Ser",
"transcript": "ENST00000959746.1",
"protein_id": "ENSP00000629805.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 672,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2609,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959746.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPCPD1",
"gene_hgnc_id": 26957,
"hgvs_c": "c.1769A>G",
"hgvs_p": "p.Asn590Ser",
"transcript": "ENST00000959748.1",
"protein_id": "ENSP00000629807.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 672,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 3871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959748.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPCPD1",
"gene_hgnc_id": 26957,
"hgvs_c": "c.1766A>G",
"hgvs_p": "p.Asn589Ser",
"transcript": "ENST00000959747.1",
"protein_id": "ENSP00000629806.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 671,
"cds_start": 1766,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1981,
"cdna_end": null,
"cdna_length": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959747.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPCPD1",
"gene_hgnc_id": 26957,
"hgvs_c": "c.1703A>G",
"hgvs_p": "p.Asn568Ser",
"transcript": "ENST00000873925.1",
"protein_id": "ENSP00000543984.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 650,
"cds_start": 1703,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873925.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPCPD1",
"gene_hgnc_id": 26957,
"hgvs_c": "c.1676A>G",
"hgvs_p": "p.Asn559Ser",
"transcript": "ENST00000922546.1",
"protein_id": "ENSP00000592605.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 641,
"cds_start": 1676,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 5266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922546.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPCPD1",
"gene_hgnc_id": 26957,
"hgvs_c": "c.542A>G",
"hgvs_p": "p.Asn181Ser",
"transcript": "ENST00000418646.5",
"protein_id": "ENSP00000396720.1",
"transcript_support_level": 5,
"aa_start": 181,
"aa_end": null,
"aa_length": 263,
"cds_start": 542,
"cds_end": null,
"cds_length": 792,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 4015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418646.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPCPD1",
"gene_hgnc_id": 26957,
"hgvs_c": "n.3177A>G",
"hgvs_p": null,
"transcript": "ENST00000481038.5",
"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": 6649,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481038.5"
}
],
"gene_symbol": "GPCPD1",
"gene_hgnc_id": 26957,
"dbsnp": "rs1985874042",
"frequency_reference_population": 0.0000013791315,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137913,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.772024393081665,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.354,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1205,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.244,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_019593.5",
"gene_symbol": "GPCPD1",
"hgnc_id": 26957,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1769A>G",
"hgvs_p": "p.Asn590Ser"
}
],
"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
}