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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: 7-73596112-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=73596112&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 73596112,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000313375.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MLXIPL",
"gene_hgnc_id": 12744,
"hgvs_c": "c.2058+41G>A",
"hgvs_p": null,
"transcript": "NM_032951.3",
"protein_id": "NP_116569.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 852,
"cds_start": -4,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": "ENST00000313375.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MLXIPL",
"gene_hgnc_id": 12744,
"hgvs_c": "c.2058+41G>A",
"hgvs_p": null,
"transcript": "ENST00000313375.8",
"protein_id": "ENSP00000320886.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 852,
"cds_start": -4,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": "NM_032951.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MLXIPL",
"gene_hgnc_id": 12744,
"hgvs_c": "c.2052+41G>A",
"hgvs_p": null,
"transcript": "ENST00000414749.6",
"protein_id": "ENSP00000412330.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 850,
"cds_start": -4,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MLXIPL",
"gene_hgnc_id": 12744,
"hgvs_c": "c.2058+41G>A",
"hgvs_p": null,
"transcript": "ENST00000429400.6",
"protein_id": "ENSP00000406296.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MLXIPL",
"gene_hgnc_id": 12744,
"hgvs_c": "c.2052+41G>A",
"hgvs_p": null,
"transcript": "ENST00000354613.5",
"protein_id": "ENSP00000346629.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 831,
"cds_start": -4,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MLXIPL",
"gene_hgnc_id": 12744,
"hgvs_c": "c.1776+41G>A",
"hgvs_p": null,
"transcript": "ENST00000434326.5",
"protein_id": "ENSP00000392636.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": -4,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MLXIPL",
"gene_hgnc_id": 12744,
"hgvs_c": "n.*179+41G>A",
"hgvs_p": null,
"transcript": "ENST00000345114.9",
"protein_id": "ENSP00000343767.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MLXIPL",
"gene_hgnc_id": 12744,
"hgvs_c": "c.2052+41G>A",
"hgvs_p": null,
"transcript": "NM_032953.3",
"protein_id": "NP_116571.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 850,
"cds_start": -4,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MLXIPL",
"gene_hgnc_id": 12744,
"hgvs_c": "c.2058+41G>A",
"hgvs_p": null,
"transcript": "NM_032952.3",
"protein_id": "NP_116570.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MLXIPL",
"gene_hgnc_id": 12744,
"hgvs_c": "c.2052+41G>A",
"hgvs_p": null,
"transcript": "NM_032954.3",
"protein_id": "NP_116572.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 831,
"cds_start": -4,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MLXIPL",
"gene_hgnc_id": 12744,
"hgvs_c": "n.1937+41G>A",
"hgvs_p": null,
"transcript": "NR_134541.2",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 13,
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"gene_symbol": "MLXIPL",
"gene_hgnc_id": 12744,
"hgvs_c": "c.2253+41G>A",
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"transcript": "XM_011516277.2",
"protein_id": "XP_011514579.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 13,
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"gene_symbol": "MLXIPL",
"gene_hgnc_id": 12744,
"hgvs_c": "c.2250+41G>A",
"hgvs_p": null,
"transcript": "XM_011516278.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 13,
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"gene_symbol": "MLXIPL",
"gene_hgnc_id": 12744,
"hgvs_c": "c.2253+41G>A",
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"transcript": "XM_011516279.2",
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},
{
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],
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"gene_symbol": "MLXIPL",
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"transcript": "XM_047420432.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 13,
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"gene_symbol": "MLXIPL",
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"hgvs_c": "c.2055+41G>A",
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"transcript": "XM_047420433.1",
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},
{
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],
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"gene_symbol": "MLXIPL",
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"hgvs_c": "c.2058+41G>A",
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"transcript": "XM_047420434.1",
"protein_id": "XP_047276390.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 17,
"intron_rank": 13,
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"gene_symbol": "MLXIPL",
"gene_hgnc_id": 12744,
"hgvs_c": "c.2055+41G>A",
"hgvs_p": null,
"transcript": "XM_047420435.1",
"protein_id": "XP_047276391.1",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "MLXIPL",
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"hgvs_c": "c.1722+41G>A",
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"transcript": "XM_047420436.1",
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},
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],
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"gene_symbol": "MLXIPL",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "MLXIPL",
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"hgvs_c": "c.1149+41G>A",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLXIPL",
"gene_hgnc_id": 12744,
"hgvs_c": "n.*62G>A",
"hgvs_p": null,
"transcript": "ENST00000467221.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLXIPL",
"gene_hgnc_id": 12744,
"hgvs_c": "n.*68G>A",
"hgvs_p": null,
"transcript": "XR_007060040.1",
"protein_id": null,
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"mane_select": null,
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}
],
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"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.151,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"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": "ENST00000313375.8",
"gene_symbol": "MLXIPL",
"hgnc_id": 12744,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2058+41G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}