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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: 4-16898413-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=16898413&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 16898413,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001290.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "NM_001290.5",
"protein_id": "NP_001281.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 373,
"cds_start": 73,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304523.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "ENST00000304523.10",
"protein_id": "ENSP00000306772.5",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 373,
"cds_start": 73,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001290.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304523.10"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "ENST00000441778.6",
"protein_id": "ENSP00000392089.2",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 331,
"cds_start": 73,
"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": "ENST00000441778.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "ENST00000502640.5",
"protein_id": "ENSP00000423963.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 313,
"cds_start": 73,
"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": "ENST00000502640.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000506732.1",
"protein_id": "ENSP00000421767.1",
"transcript_support_level": 4,
"aa_start": 1,
"aa_end": null,
"aa_length": 163,
"cds_start": 1,
"cds_end": null,
"cds_length": 493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506732.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "NM_001304434.2",
"protein_id": "NP_001291363.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 371,
"cds_start": 73,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304434.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "ENST00000515064.5",
"protein_id": "ENSP00000422552.1",
"transcript_support_level": 2,
"aa_start": 25,
"aa_end": null,
"aa_length": 371,
"cds_start": 73,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515064.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "ENST00000854230.1",
"protein_id": "ENSP00000524289.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 370,
"cds_start": 73,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854230.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "ENST00000854229.1",
"protein_id": "ENSP00000524288.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 345,
"cds_start": 73,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854229.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "ENST00000854232.1",
"protein_id": "ENSP00000524291.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 343,
"cds_start": 73,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854232.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "ENST00000854231.1",
"protein_id": "ENSP00000524290.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 342,
"cds_start": 73,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854231.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "NM_001130834.3",
"protein_id": "NP_001124306.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 331,
"cds_start": 73,
"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": "NM_001130834.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "NM_001304435.2",
"protein_id": "NP_001291364.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 313,
"cds_start": 73,
"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": "NM_001304435.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "XM_006713975.5",
"protein_id": "XP_006714038.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 411,
"cds_start": 73,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713975.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "XM_006713976.5",
"protein_id": "XP_006714039.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 410,
"cds_start": 73,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713976.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "XM_006713977.5",
"protein_id": "XP_006714040.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 409,
"cds_start": 73,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713977.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "XM_017008812.3",
"protein_id": "XP_016864301.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 408,
"cds_start": 73,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008812.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "XM_005248197.5",
"protein_id": "XP_005248254.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 372,
"cds_start": 73,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248197.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "XM_017008813.3",
"protein_id": "XP_016864302.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 370,
"cds_start": 73,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008813.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "XM_006713982.5",
"protein_id": "XP_006714045.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 351,
"cds_start": 73,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713982.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "XM_017008815.3",
"protein_id": "XP_016864304.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 350,
"cds_start": 73,
"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": "XM_017008815.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Met25Val",
"transcript": "XM_006713983.5",
"protein_id": "XP_006714046.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 349,
"cds_start": 73,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713983.5"
},
{
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"aa_alt": "V",
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{
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{
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{
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{
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],
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],
"gene_symbol": "LDB2",
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"dbsnp": "rs140709141",
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"hom_count_reference_population": 0,
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"gnomad_exomes_af": 0.00000684218,
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"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30003899335861206,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.182,
"revel_prediction": "Benign",
"alphamissense_score": 0.0696,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.788,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001290.5",
"gene_symbol": "LDB2",
"hgnc_id": 6533,
"effects": [
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],
"inheritance_mode": "AD",
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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
}