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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: 1-16448123-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16448123&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 16448123,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001145277.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Ala121Val",
"transcript": "NM_018090.5",
"protein_id": "NP_060560.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 263,
"cds_start": 362,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337132.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018090.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Ala121Val",
"transcript": "ENST00000337132.10",
"protein_id": "ENSP00000338746.5",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 263,
"cds_start": 362,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018090.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337132.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Ala121Val",
"transcript": "NM_001145277.2",
"protein_id": "NP_001138749.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 273,
"cds_start": 362,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145277.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Ala121Val",
"transcript": "ENST00000443980.6",
"protein_id": "ENSP00000391942.2",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 273,
"cds_start": 362,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443980.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Ala121Val",
"transcript": "ENST00000966887.1",
"protein_id": "ENSP00000636946.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 262,
"cds_start": 362,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966887.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Ala121Val",
"transcript": "ENST00000966888.1",
"protein_id": "ENSP00000636947.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 262,
"cds_start": 362,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966888.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Ala121Val",
"transcript": "ENST00000893002.1",
"protein_id": "ENSP00000563061.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 260,
"cds_start": 362,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893002.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ala95Val",
"transcript": "NM_001145278.2",
"protein_id": "NP_001138750.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 237,
"cds_start": 284,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145278.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ala95Val",
"transcript": "ENST00000457722.6",
"protein_id": "ENSP00000407091.2",
"transcript_support_level": 2,
"aa_start": 95,
"aa_end": null,
"aa_length": 237,
"cds_start": 284,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457722.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Ala121Val",
"transcript": "ENST00000916912.1",
"protein_id": "ENSP00000586971.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 205,
"cds_start": 362,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916912.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Ala68Val",
"transcript": "XM_047424713.1",
"protein_id": "XP_047280669.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 220,
"cds_start": 203,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424713.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Ala121Val",
"transcript": "XM_047424715.1",
"protein_id": "XP_047280671.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 194,
"cds_start": 362,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424715.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "c.197+149C>T",
"hgvs_p": null,
"transcript": "ENST00000504551.6",
"protein_id": "ENSP00000424509.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": null,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504551.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "c.93-970C>T",
"hgvs_p": null,
"transcript": "ENST00000893001.1",
"protein_id": "ENSP00000563060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893001.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "c.193+4391C>T",
"hgvs_p": null,
"transcript": "ENST00000916911.1",
"protein_id": "ENSP00000586970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916911.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "n.362C>T",
"hgvs_p": null,
"transcript": "ENST00000459640.5",
"protein_id": "ENSP00000421335.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000459640.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "n.362C>T",
"hgvs_p": null,
"transcript": "ENST00000492095.5",
"protein_id": "ENSP00000427620.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000492095.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "n.366C>T",
"hgvs_p": null,
"transcript": "ENST00000496239.5",
"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": "ENST00000496239.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "n.350C>T",
"hgvs_p": null,
"transcript": "ENST00000508680.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000508680.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "n.298+149C>T",
"hgvs_p": null,
"transcript": "ENST00000504858.5",
"protein_id": "ENSP00000421867.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000504858.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"hgvs_c": "n.182-970C>T",
"hgvs_p": null,
"transcript": "ENST00000513161.1",
"protein_id": "ENSP00000423213.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000513161.1"
}
],
"gene_symbol": "NECAP2",
"gene_hgnc_id": 25528,
"dbsnp": "rs147349823",
"frequency_reference_population": 0.000021066118,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000143654,
"gnomad_genomes_af": 0.0000854577,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7914759516716003,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.409,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.816,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.45,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.13,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001145277.2",
"gene_symbol": "NECAP2",
"hgnc_id": 25528,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Ala121Val"
}
],
"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
}