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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: 4-99043295-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=99043295&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 99043295,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015143.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Asn188Ser",
"transcript": "NM_015143.3",
"protein_id": "NP_055958.2",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 386,
"cds_start": 563,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": "ENST00000296411.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015143.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Asn188Ser",
"transcript": "ENST00000296411.11",
"protein_id": "ENSP00000296411.6",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 386,
"cds_start": 563,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": "NM_015143.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296411.11"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.560A>G",
"hgvs_p": "p.Asn187Ser",
"transcript": "ENST00000869926.1",
"protein_id": "ENSP00000539985.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 385,
"cds_start": 560,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869926.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.560A>G",
"hgvs_p": "p.Asn187Ser",
"transcript": "ENST00000969299.1",
"protein_id": "ENSP00000639358.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 385,
"cds_start": 560,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969299.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Asn188Ser",
"transcript": "ENST00000924347.1",
"protein_id": "ENSP00000594406.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 383,
"cds_start": 563,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924347.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.533A>G",
"hgvs_p": "p.Asn178Ser",
"transcript": "ENST00000869927.1",
"protein_id": "ENSP00000539986.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 376,
"cds_start": 533,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869927.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Asn188Ser",
"transcript": "ENST00000869925.1",
"protein_id": "ENSP00000539984.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 364,
"cds_start": 563,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869925.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Asn188Ser",
"transcript": "ENST00000924345.1",
"protein_id": "ENSP00000594404.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 316,
"cds_start": 563,
"cds_end": null,
"cds_length": 951,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 2617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924345.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.560A>G",
"hgvs_p": "p.Asn187Ser",
"transcript": "ENST00000924348.1",
"protein_id": "ENSP00000594407.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 315,
"cds_start": 560,
"cds_end": null,
"cds_length": 948,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924348.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.47A>G",
"hgvs_p": "p.Asn16Ser",
"transcript": "ENST00000510133.5",
"protein_id": "ENSP00000423071.1",
"transcript_support_level": 5,
"aa_start": 16,
"aa_end": null,
"aa_length": 170,
"cds_start": 47,
"cds_end": null,
"cds_length": 513,
"cdna_start": 47,
"cdna_end": null,
"cdna_length": 715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510133.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.524A>G",
"hgvs_p": "p.Asn175Ser",
"transcript": "XM_011531777.4",
"protein_id": "XP_011530079.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 373,
"cds_start": 524,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 3945,
"cdna_end": null,
"cdna_length": 6035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531777.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.458A>G",
"hgvs_p": "p.Asn153Ser",
"transcript": "XM_011531778.3",
"protein_id": "XP_011530080.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 351,
"cds_start": 458,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531778.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Asn188Ser",
"transcript": "XM_011531779.3",
"protein_id": "XP_011530081.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 342,
"cds_start": 563,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531779.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Asn188Ser",
"transcript": "XM_017007914.3",
"protein_id": "XP_016863403.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 338,
"cds_start": 563,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007914.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asn138Ser",
"transcript": "XM_047449883.1",
"protein_id": "XP_047305839.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 336,
"cds_start": 413,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449883.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asn138Ser",
"transcript": "XM_047449884.1",
"protein_id": "XP_047305840.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 336,
"cds_start": 413,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449884.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asn138Ser",
"transcript": "XM_047449885.1",
"protein_id": "XP_047305841.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 336,
"cds_start": 413,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449885.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.524A>G",
"hgvs_p": "p.Asn175Ser",
"transcript": "XM_024453946.2",
"protein_id": "XP_024309714.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 524,
"cds_end": null,
"cds_length": 990,
"cdna_start": 3945,
"cdna_end": null,
"cdna_length": 5903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453946.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.458A>G",
"hgvs_p": "p.Asn153Ser",
"transcript": "XM_024453947.2",
"protein_id": "XP_024309715.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 307,
"cds_start": 458,
"cds_end": null,
"cds_length": 924,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453947.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Asn95Ser",
"transcript": "XM_017007916.3",
"protein_id": "XP_016863405.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 293,
"cds_start": 284,
"cds_end": null,
"cds_length": 882,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007916.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Asn95Ser",
"transcript": "XM_017007917.3",
"protein_id": "XP_016863406.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 293,
"cds_start": 284,
"cds_end": null,
"cds_length": 882,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007917.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.Asn74Ser",
"transcript": "XM_024453951.2",
"protein_id": "XP_024309719.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 272,
"cds_start": 221,
"cds_end": null,
"cds_length": 819,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
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{
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{
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],
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.30000001192092896,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.807,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.3,
"spliceai_max_prediction": "Uncertain_significance",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"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",
"transcript": "NM_015143.3",
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"effects": [
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],
"inheritance_mode": "AR",
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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
}