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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: 1-43991961-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43991961&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43991961,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152499.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.83T>C",
"hgvs_p": "p.Leu28Pro",
"transcript": "NM_152499.4",
"protein_id": "NP_689712.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 307,
"cds_start": 83,
"cds_end": null,
"cds_length": 924,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1472,
"mane_select": "ENST00000372318.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.83T>C",
"hgvs_p": "p.Leu28Pro",
"transcript": "ENST00000372318.8",
"protein_id": "ENSP00000361392.3",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 307,
"cds_start": 83,
"cds_end": null,
"cds_length": 924,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1472,
"mane_select": "NM_152499.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "n.83T>C",
"hgvs_p": null,
"transcript": "ENST00000463846.5",
"protein_id": "ENSP00000476322.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "n.196T>C",
"hgvs_p": null,
"transcript": "ENST00000490563.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1373A>G",
"hgvs_p": "p.Gln458Arg",
"transcript": "ENST00000372307.7",
"protein_id": "ENSP00000361381.3",
"transcript_support_level": 2,
"aa_start": 458,
"aa_end": null,
"aa_length": 574,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.83T>C",
"hgvs_p": "p.Leu28Pro",
"transcript": "NM_001349128.1",
"protein_id": "NP_001336057.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 319,
"cds_start": 83,
"cds_end": null,
"cds_length": 960,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 1360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.83T>C",
"hgvs_p": "p.Leu28Pro",
"transcript": "NM_001349127.2",
"protein_id": "NP_001336056.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 312,
"cds_start": 83,
"cds_end": null,
"cds_length": 939,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.83T>C",
"hgvs_p": "p.Leu28Pro",
"transcript": "ENST00000466180.1",
"protein_id": "ENSP00000476456.1",
"transcript_support_level": 3,
"aa_start": 28,
"aa_end": null,
"aa_length": 219,
"cds_start": 83,
"cds_end": null,
"cds_length": 660,
"cdna_start": 120,
"cdna_end": null,
"cdna_length": 697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1656A>G",
"hgvs_p": "p.Pro552Pro",
"transcript": "ENST00000372306.7",
"protein_id": "ENSP00000361380.3",
"transcript_support_level": 2,
"aa_start": 552,
"aa_end": null,
"aa_length": 579,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1796,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "n.83T>C",
"hgvs_p": null,
"transcript": "ENST00000460543.5",
"protein_id": "ENSP00000476285.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "n.160T>C",
"hgvs_p": null,
"transcript": "ENST00000485811.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "n.83T>C",
"hgvs_p": null,
"transcript": "ENST00000486064.5",
"protein_id": "ENSP00000476661.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "n.83T>C",
"hgvs_p": null,
"transcript": "ENST00000486504.5",
"protein_id": "ENSP00000476589.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "n.83T>C",
"hgvs_p": null,
"transcript": "ENST00000490064.5",
"protein_id": "ENSP00000476914.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "n.136T>C",
"hgvs_p": null,
"transcript": "NR_146064.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.-141T>C",
"hgvs_p": null,
"transcript": "NM_001349129.1",
"protein_id": "NP_001336058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": -4,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"dbsnp": "rs544917842",
"frequency_reference_population": 0.000009142176,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000869957,
"gnomad_genomes_af": 0.0000131591,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3811907172203064,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.515,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8487,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.359,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3,BP4",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152499.4",
"gene_symbol": "CCDC24",
"hgnc_id": 28688,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.83T>C",
"hgvs_p": "p.Leu28Pro"
},
{
"score": -1,
"benign_score": 2,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000372307.7",
"gene_symbol": "SLC6A9",
"hgnc_id": 11056,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1373A>G",
"hgvs_p": "p.Gln458Arg"
}
],
"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
}