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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: 14-24441679-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24441679&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24441679,
"ref": "C",
"alt": "T",
"effect": "splice_donor_variant,intron_variant",
"transcript": "NM_001387324.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Gly108Asp",
"transcript": "NM_020195.3",
"protein_id": "NP_064580.2",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 293,
"cds_start": 323,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399395.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020195.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Gly108Asp",
"transcript": "ENST00000399395.8",
"protein_id": "ENSP00000382327.3",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 293,
"cds_start": 323,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020195.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399395.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHNYN",
"gene_hgnc_id": 20166,
"hgvs_c": "c.*4394C>T",
"hgvs_p": null,
"transcript": "NM_015299.3",
"protein_id": "NP_056114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000553935.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015299.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHNYN",
"gene_hgnc_id": 20166,
"hgvs_c": "c.*4394C>T",
"hgvs_p": null,
"transcript": "ENST00000553935.6",
"protein_id": "ENSP00000450799.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015299.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553935.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHNYN",
"gene_hgnc_id": 20166,
"hgvs_c": "c.*4394C>T",
"hgvs_p": null,
"transcript": "ENST00000251343.9",
"protein_id": "ENSP00000251343.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251343.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.4+419G>A",
"hgvs_p": null,
"transcript": "ENST00000554698.5",
"protein_id": "ENSP00000452438.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": null,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554698.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "n.631G>A",
"hgvs_p": null,
"transcript": "ENST00000544691.6",
"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": "ENST00000544691.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.-162G>A",
"hgvs_p": null,
"transcript": "ENST00000553930.5",
"protein_id": "ENSP00000452499.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": null,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553930.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.-343G>A",
"hgvs_p": null,
"transcript": "ENST00000555355.5",
"protein_id": "ENSP00000450946.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": null,
"cds_end": null,
"cds_length": 386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555355.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.-179G>A",
"hgvs_p": null,
"transcript": "ENST00000555365.5",
"protein_id": "ENSP00000451903.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": null,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555365.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Gly131Asp",
"transcript": "NM_001387322.1",
"protein_id": "NP_001374251.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 316,
"cds_start": 392,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387322.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.236G>A",
"hgvs_p": "p.Gly79Asp",
"transcript": "NM_001387325.1",
"protein_id": "NP_001374254.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 264,
"cds_start": 236,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387325.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Gly108Asp",
"transcript": "NM_001387326.1",
"protein_id": "NP_001374255.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 251,
"cds_start": 323,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387326.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Gly108Asp",
"transcript": "ENST00000859574.1",
"protein_id": "ENSP00000529633.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 251,
"cds_start": 323,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859574.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.-175G>A",
"hgvs_p": null,
"transcript": "ENST00000555225.5",
"protein_id": "ENSP00000451593.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555225.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.-175G>A",
"hgvs_p": null,
"transcript": "ENST00000556523.1",
"protein_id": "ENSP00000451275.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 65,
"cds_start": null,
"cds_end": null,
"cds_length": 200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556523.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.-162G>A",
"hgvs_p": null,
"transcript": "ENST00000553930.5",
"protein_id": "ENSP00000452499.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": null,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553930.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.-343G>A",
"hgvs_p": null,
"transcript": "ENST00000555355.5",
"protein_id": "ENSP00000450946.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": null,
"cds_end": null,
"cds_length": 386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555355.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.-179G>A",
"hgvs_p": null,
"transcript": "ENST00000555365.5",
"protein_id": "ENSP00000451903.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": null,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555365.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.-175G>A",
"hgvs_p": null,
"transcript": "ENST00000555225.5",
"protein_id": "ENSP00000451593.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555225.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.-175G>A",
"hgvs_p": null,
"transcript": "ENST00000556523.1",
"protein_id": "ENSP00000451275.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 65,
"cds_start": null,
"cds_end": null,
"cds_length": 200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556523.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHNYN",
"gene_hgnc_id": 20166,
"hgvs_c": "c.*4394C>T",
"hgvs_p": null,
"transcript": "NM_001290256.2",
"protein_id": "NP_001277185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 719,
"cds_start": null,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290256.2"
},
{
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Pathogenic",
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"alphamissense_prediction": "Pathogenic",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
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"effects": [
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},
{
"score": 4,
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"criteria": [
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],
"verdict": "Uncertain_significance",
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}
],
"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
}