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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: 17-74695151-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74695151&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 74695151,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001289084.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.818T>C",
"hgvs_p": "p.Leu273Pro",
"transcript": "NM_139018.5",
"protein_id": "NP_620587.2",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 290,
"cds_start": 818,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326165.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139018.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.818T>C",
"hgvs_p": "p.Leu273Pro",
"transcript": "ENST00000326165.11",
"protein_id": "ENSP00000327075.6",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 290,
"cds_start": 818,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139018.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326165.11"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.827T>C",
"hgvs_p": "p.Leu276Pro",
"transcript": "ENST00000464910.5",
"protein_id": "ENSP00000464257.1",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 293,
"cds_start": 827,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464910.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.*129T>C",
"hgvs_p": null,
"transcript": "ENST00000469092.5",
"protein_id": "ENSP00000463743.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469092.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "n.*193T>C",
"hgvs_p": null,
"transcript": "ENST00000462044.5",
"protein_id": "ENSP00000464223.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000462044.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "n.*193T>C",
"hgvs_p": null,
"transcript": "ENST00000462044.5",
"protein_id": "ENSP00000464223.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000462044.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.887T>C",
"hgvs_p": "p.Leu296Pro",
"transcript": "ENST00000963433.1",
"protein_id": "ENSP00000633492.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 313,
"cds_start": 887,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963433.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.875T>C",
"hgvs_p": "p.Leu292Pro",
"transcript": "ENST00000963432.1",
"protein_id": "ENSP00000633491.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 309,
"cds_start": 875,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963432.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.872T>C",
"hgvs_p": "p.Leu291Pro",
"transcript": "ENST00000886268.1",
"protein_id": "ENSP00000556327.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 308,
"cds_start": 872,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886268.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.863T>C",
"hgvs_p": "p.Leu288Pro",
"transcript": "NM_001289084.2",
"protein_id": "NP_001276013.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 305,
"cds_start": 863,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289084.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.863T>C",
"hgvs_p": "p.Leu288Pro",
"transcript": "ENST00000583937.5",
"protein_id": "ENSP00000462309.1",
"transcript_support_level": 2,
"aa_start": 288,
"aa_end": null,
"aa_length": 305,
"cds_start": 863,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583937.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.860T>C",
"hgvs_p": "p.Leu287Pro",
"transcript": "ENST00000963430.1",
"protein_id": "ENSP00000633489.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 304,
"cds_start": 860,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963430.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.827T>C",
"hgvs_p": "p.Leu276Pro",
"transcript": "NM_001289085.2",
"protein_id": "NP_001276014.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 293,
"cds_start": 827,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289085.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Leu272Pro",
"transcript": "ENST00000963431.1",
"protein_id": "ENSP00000633490.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 289,
"cds_start": 815,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963431.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.962T>C",
"hgvs_p": "p.Leu321Pro",
"transcript": "XM_047435407.1",
"protein_id": "XP_047291363.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 338,
"cds_start": 962,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435407.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.953T>C",
"hgvs_p": "p.Leu318Pro",
"transcript": "XM_047435408.1",
"protein_id": "XP_047291364.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 335,
"cds_start": 953,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435408.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.953T>C",
"hgvs_p": "p.Leu318Pro",
"transcript": "XM_047435409.1",
"protein_id": "XP_047291365.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 335,
"cds_start": 953,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435409.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.950T>C",
"hgvs_p": "p.Leu317Pro",
"transcript": "XM_047435410.1",
"protein_id": "XP_047291366.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 334,
"cds_start": 950,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435410.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.941T>C",
"hgvs_p": "p.Leu314Pro",
"transcript": "XM_047435411.1",
"protein_id": "XP_047291367.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 331,
"cds_start": 941,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435411.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.905T>C",
"hgvs_p": "p.Leu302Pro",
"transcript": "XM_047435412.1",
"protein_id": "XP_047291368.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 319,
"cds_start": 905,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435412.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.896T>C",
"hgvs_p": "p.Leu299Pro",
"transcript": "XM_047435413.1",
"protein_id": "XP_047291369.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 316,
"cds_start": 896,
"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": "XM_047435413.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.896T>C",
"hgvs_p": "p.Leu299Pro",
"transcript": "XM_047435415.1",
"protein_id": "XP_047291371.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 316,
"cds_start": 896,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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],
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"computational_score_selected": 0.04675889015197754,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.855,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001289084.2",
"gene_symbol": "CD300LF",
"hgnc_id": 29883,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.863T>C",
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},
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_175738.5",
"gene_symbol": "RAB37",
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"effects": [
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],
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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
}