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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: 9-37126931-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=37126931&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 37126931,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000336755.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ser200Phe",
"transcript": "NM_032226.3",
"protein_id": "NP_115602.2",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 543,
"cds_start": 599,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": "ENST00000336755.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ser200Phe",
"transcript": "ENST00000336755.10",
"protein_id": "ENSP00000337839.5",
"transcript_support_level": 2,
"aa_start": 200,
"aa_end": null,
"aa_length": 543,
"cds_start": 599,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": "NM_032226.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ser200Phe",
"transcript": "ENST00000534928.5",
"protein_id": "ENSP00000443113.2",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 543,
"cds_start": 599,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Phe",
"transcript": "ENST00000322831.6",
"protein_id": "ENSP00000316365.6",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 205,
"cds_start": 596,
"cds_end": null,
"cds_length": 618,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 1219,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "n.879C>T",
"hgvs_p": null,
"transcript": "ENST00000461038.5",
"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": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ser200Phe",
"transcript": "NM_001289119.2",
"protein_id": "NP_001276048.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 543,
"cds_start": 599,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ser200Phe",
"transcript": "NM_001289120.2",
"protein_id": "NP_001276049.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 543,
"cds_start": 599,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ser200Phe",
"transcript": "NM_001289121.2",
"protein_id": "NP_001276050.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 543,
"cds_start": 599,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ser200Phe",
"transcript": "XM_005251608.5",
"protein_id": "XP_005251665.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 543,
"cds_start": 599,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ser200Phe",
"transcript": "XM_005251612.4",
"protein_id": "XP_005251669.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 543,
"cds_start": 599,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ser200Phe",
"transcript": "XM_011518050.3",
"protein_id": "XP_011516352.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 511,
"cds_start": 599,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ser200Phe",
"transcript": "XM_017015197.2",
"protein_id": "XP_016870686.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 511,
"cds_start": 599,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ser200Phe",
"transcript": "XM_017015198.2",
"protein_id": "XP_016870687.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 511,
"cds_start": 599,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ser200Phe",
"transcript": "XM_047423957.1",
"protein_id": "XP_047279913.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 511,
"cds_start": 599,
"cds_end": null,
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"cdna_start": 674,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ser200Phe",
"transcript": "XM_047423958.1",
"protein_id": "XP_047279914.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 511,
"cds_start": 599,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 2759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Leu",
"transcript": "XM_017015199.3",
"protein_id": "XP_016870688.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 345,
"cds_start": 49,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Leu",
"transcript": "XM_017015200.2",
"protein_id": "XP_016870689.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 345,
"cds_start": 49,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Leu",
"transcript": "XM_024447691.2",
"protein_id": "XP_024303459.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 345,
"cds_start": 49,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Leu",
"transcript": "XM_047423959.1",
"protein_id": "XP_047279915.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 345,
"cds_start": 49,
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"cdna_start": 674,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Leu",
"transcript": "XM_047423960.1",
"protein_id": "XP_047279916.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 345,
"cds_start": 49,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "n.152+6308C>T",
"hgvs_p": null,
"transcript": "NR_110317.1",
"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": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.-261+6304C>T",
"hgvs_p": null,
"transcript": "XM_047423962.1",
"protein_id": "XP_047279918.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": -4,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"dbsnp": "rs190969738",
"frequency_reference_population": 0.000026653013,
"hom_count_reference_population": 0,
"allele_count_reference_population": 43,
"gnomad_exomes_af": 0.000021217,
"gnomad_genomes_af": 0.000078825,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03644123673439026,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.2,
"revel_prediction": "Benign",
"alphamissense_score": 0.1562,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.419,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000336755.10",
"gene_symbol": "ZCCHC7",
"hgnc_id": 26209,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ser200Phe"
}
],
"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
}