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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: 2-96711703-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96711703&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 96711703,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001142292.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Pro246Leu",
"transcript": "NM_030805.4",
"protein_id": "NP_110432.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 348,
"cds_start": 737,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264963.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030805.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Pro246Leu",
"transcript": "ENST00000264963.9",
"protein_id": "ENSP00000264963.4",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 348,
"cds_start": 737,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030805.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264963.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Pro257Leu",
"transcript": "ENST00000377079.8",
"protein_id": "ENSP00000366280.4",
"transcript_support_level": 1,
"aa_start": 257,
"aa_end": null,
"aa_length": 359,
"cds_start": 770,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377079.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Pro259Leu",
"transcript": "ENST00000970314.1",
"protein_id": "ENSP00000640373.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 361,
"cds_start": 776,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970314.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Pro257Leu",
"transcript": "NM_001142292.2",
"protein_id": "NP_001135764.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 359,
"cds_start": 770,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142292.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.743C>T",
"hgvs_p": "p.Pro248Leu",
"transcript": "ENST00000893541.1",
"protein_id": "ENSP00000563600.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 350,
"cds_start": 743,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893541.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.734C>T",
"hgvs_p": "p.Pro245Leu",
"transcript": "ENST00000970312.1",
"protein_id": "ENSP00000640371.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 347,
"cds_start": 734,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970312.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Pro257Leu",
"transcript": "ENST00000970313.1",
"protein_id": "ENSP00000640372.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 331,
"cds_start": 770,
"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": "ENST00000970313.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.665C>T",
"hgvs_p": "p.Pro222Leu",
"transcript": "ENST00000970315.1",
"protein_id": "ENSP00000640374.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 324,
"cds_start": 665,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970315.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Pro246Leu",
"transcript": "ENST00000920371.1",
"protein_id": "ENSP00000590430.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 320,
"cds_start": 737,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920371.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Pro211Leu",
"transcript": "ENST00000893540.1",
"protein_id": "ENSP00000563599.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 313,
"cds_start": 632,
"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": "ENST00000893540.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Pro192Leu",
"transcript": "ENST00000893542.1",
"protein_id": "ENSP00000563601.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 294,
"cds_start": 575,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893542.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Pro119Leu",
"transcript": "NM_001322347.2",
"protein_id": "NP_001309276.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 221,
"cds_start": 356,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322347.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Pro119Leu",
"transcript": "NM_001322352.2",
"protein_id": "NP_001309281.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 221,
"cds_start": 356,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322352.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Pro112Leu",
"transcript": "NM_001322346.2",
"protein_id": "NP_001309275.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 214,
"cds_start": 335,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322346.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Pro112Leu",
"transcript": "NM_001322354.2",
"protein_id": "NP_001309283.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 214,
"cds_start": 335,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322354.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.323C>T",
"hgvs_p": "p.Pro108Leu",
"transcript": "NM_001322350.2",
"protein_id": "NP_001309279.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 210,
"cds_start": 323,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322350.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Pro101Leu",
"transcript": "NM_001322351.2",
"protein_id": "NP_001309280.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 203,
"cds_start": 302,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322351.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Pro101Leu",
"transcript": "NM_001322355.2",
"protein_id": "NP_001309284.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 203,
"cds_start": 302,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322355.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Pro101Leu",
"transcript": "NM_001322356.2",
"protein_id": "NP_001309285.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 203,
"cds_start": 302,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322356.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.323C>T",
"hgvs_p": "p.Pro108Leu",
"transcript": "XM_047445946.1",
"protein_id": "XP_047301902.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 210,
"cds_start": 323,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445946.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "n.*494C>T",
"hgvs_p": null,
"transcript": "ENST00000434524.5",
"protein_id": "ENSP00000413533.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000434524.5"
},
{
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{
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],
"gene_symbol": "LMAN2L",
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"dbsnp": "rs1228302424",
"frequency_reference_population": 0.000006573066,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657307,
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"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9918688535690308,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.94,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9696,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
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"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001142292.2",
"gene_symbol": "LMAN2L",
"hgnc_id": 19263,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Pro257Leu"
}
],
"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
}