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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: 1-53326979-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=53326979&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 53326979,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004631.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "NM_004631.5",
"protein_id": "NP_004622.2",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 963,
"cds_start": 138,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306052.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004631.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000306052.12",
"protein_id": "ENSP00000303634.6",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 963,
"cds_start": 138,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004631.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306052.12"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000371454.6",
"protein_id": "ENSP00000360509.2",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 904,
"cds_start": 138,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371454.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000347547.7",
"protein_id": "ENSP00000334522.2",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 793,
"cds_start": 138,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347547.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000354412.7",
"protein_id": "ENSP00000346391.3",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 700,
"cds_start": 138,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354412.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000914986.1",
"protein_id": "ENSP00000585045.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 944,
"cds_start": 138,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914986.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000914998.1",
"protein_id": "ENSP00000585057.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 944,
"cds_start": 138,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914998.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000915001.1",
"protein_id": "ENSP00000585060.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 934,
"cds_start": 138,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915001.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000667377.1",
"protein_id": "ENSP00000499405.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 926,
"cds_start": 138,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000667377.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000914990.1",
"protein_id": "ENSP00000585049.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 922,
"cds_start": 138,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914990.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000914969.1",
"protein_id": "ENSP00000585028.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 921,
"cds_start": 138,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914969.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000945255.1",
"protein_id": "ENSP00000615314.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 917,
"cds_start": 138,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945255.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "NM_001018054.3",
"protein_id": "NP_001018064.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 904,
"cds_start": 138,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018054.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000945260.1",
"protein_id": "ENSP00000615319.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 901,
"cds_start": 138,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945260.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000659993.1",
"protein_id": "ENSP00000499697.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 888,
"cds_start": 138,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000659993.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000668448.1",
"protein_id": "ENSP00000499273.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 888,
"cds_start": 138,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000668448.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000915002.1",
"protein_id": "ENSP00000585061.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 875,
"cds_start": 138,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915002.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000914974.1",
"protein_id": "ENSP00000585033.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 863,
"cds_start": 138,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914974.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000914980.1",
"protein_id": "ENSP00000585039.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 862,
"cds_start": 138,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914980.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000945259.1",
"protein_id": "ENSP00000615318.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 846,
"cds_start": 138,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945259.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.120T>G",
"hgvs_p": "p.Asp40Glu",
"transcript": "ENST00000465675.6",
"protein_id": "ENSP00000437009.2",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 841,
"cds_start": 120,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465675.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000662198.1",
"protein_id": "ENSP00000499355.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 834,
"cds_start": 138,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000662198.1"
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"gnomad_exomes_af": 0.372928,
"gnomad_genomes_af": 0.497029,
"gnomad_exomes_ac": 544810,
"gnomad_genomes_ac": 75611,
"gnomad_exomes_homalt": 107081,
"gnomad_genomes_homalt": 22436,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000020661320832005003,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.216,
"revel_prediction": "Benign",
"alphamissense_score": 0.0865,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.363,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_004631.5",
"gene_symbol": "LRP8",
"hgnc_id": 6700,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.138T>G",
"hgvs_p": "p.Asp46Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}