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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: 2-206786740-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=206786740&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 206786740,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014929.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"hgvs_c": "c.1435G>T",
"hgvs_p": "p.Val479Leu",
"transcript": "NM_001136193.2",
"protein_id": "NP_001129665.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 710,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000402774.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136193.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"hgvs_c": "c.1435G>T",
"hgvs_p": "p.Val479Leu",
"transcript": "ENST00000402774.8",
"protein_id": "ENSP00000385990.3",
"transcript_support_level": 1,
"aa_start": 479,
"aa_end": null,
"aa_length": 710,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001136193.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402774.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"hgvs_c": "c.1435G>T",
"hgvs_p": "p.Val479Leu",
"transcript": "ENST00000236980.10",
"protein_id": "ENSP00000236980.6",
"transcript_support_level": 1,
"aa_start": 479,
"aa_end": null,
"aa_length": 710,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000236980.10"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"hgvs_c": "c.1435G>T",
"hgvs_p": "p.Val479Leu",
"transcript": "NM_001136194.2",
"protein_id": "NP_001129666.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 710,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136194.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"hgvs_c": "c.1435G>T",
"hgvs_p": "p.Val479Leu",
"transcript": "NM_014929.4",
"protein_id": "NP_055744.2",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 710,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014929.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"hgvs_c": "c.1435G>T",
"hgvs_p": "p.Val479Leu",
"transcript": "ENST00000403094.3",
"protein_id": "ENSP00000384929.3",
"transcript_support_level": 5,
"aa_start": 479,
"aa_end": null,
"aa_length": 710,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403094.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"hgvs_c": "c.1435G>T",
"hgvs_p": "p.Val479Leu",
"transcript": "ENST00000870595.1",
"protein_id": "ENSP00000540654.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 710,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870595.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"hgvs_c": "c.1435G>T",
"hgvs_p": "p.Val479Leu",
"transcript": "ENST00000966850.1",
"protein_id": "ENSP00000636909.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 710,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966850.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"hgvs_c": "c.1435G>T",
"hgvs_p": "p.Val479Leu",
"transcript": "ENST00000966852.1",
"protein_id": "ENSP00000636911.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 710,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966852.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"hgvs_c": "c.1435G>T",
"hgvs_p": "p.Val479Leu",
"transcript": "ENST00000966851.1",
"protein_id": "ENSP00000636910.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 704,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966851.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"hgvs_c": "c.1435G>T",
"hgvs_p": "p.Val479Leu",
"transcript": "ENST00000870594.1",
"protein_id": "ENSP00000540653.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 702,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870594.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"hgvs_c": "c.1435G>T",
"hgvs_p": "p.Val479Leu",
"transcript": "ENST00000966849.1",
"protein_id": "ENSP00000636908.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 693,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966849.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Val460Leu",
"transcript": "ENST00000870593.1",
"protein_id": "ENSP00000540652.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 691,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870593.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Val460Leu",
"transcript": "ENST00000918135.1",
"protein_id": "ENSP00000588194.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 691,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918135.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"hgvs_c": "c.1363G>T",
"hgvs_p": "p.Val455Leu",
"transcript": "ENST00000870596.1",
"protein_id": "ENSP00000540655.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 686,
"cds_start": 1363,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870596.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"hgvs_c": "c.1363G>T",
"hgvs_p": "p.Val455Leu",
"transcript": "ENST00000918136.1",
"protein_id": "ENSP00000588195.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 686,
"cds_start": 1363,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918136.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"hgvs_c": "n.127G>T",
"hgvs_p": null,
"transcript": "ENST00000471788.1",
"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": "ENST00000471788.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"hgvs_c": "n.1493G>T",
"hgvs_p": null,
"transcript": "ENST00000487777.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000487777.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000299634",
"gene_hgnc_id": null,
"hgvs_c": "n.236C>A",
"hgvs_p": null,
"transcript": "ENST00000765262.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000765262.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000299634",
"gene_hgnc_id": null,
"hgvs_c": "n.462C>A",
"hgvs_p": null,
"transcript": "ENST00000765263.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000765263.1"
}
],
"gene_symbol": "FASTKD2",
"gene_hgnc_id": 29160,
"dbsnp": "rs145043229",
"frequency_reference_population": 0.0004269601,
"hom_count_reference_population": 2,
"allele_count_reference_population": 689,
"gnomad_exomes_af": 0.000241537,
"gnomad_genomes_af": 0.00220678,
"gnomad_exomes_ac": 353,
"gnomad_genomes_ac": 336,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005548626184463501,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.082,
"revel_prediction": "Benign",
"alphamissense_score": 0.0672,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.457,
"phylop100way_prediction": "Benign",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_014929.4",
"gene_symbol": "FASTKD2",
"hgnc_id": 29160,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1435G>T",
"hgvs_p": "p.Val479Leu"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000765262.1",
"gene_symbol": "ENSG00000299634",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.236C>A",
"hgvs_p": null
}
],
"clinvar_disease": " nuclear type 1,Mitochondrial complex IV deficiency,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:1",
"phenotype_combined": "not provided|not specified|Mitochondrial complex IV deficiency, nuclear type 1",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}