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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: 15-75356641-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75356641&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAN2C1",
"hgnc_id": 6827,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Arg918Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001256494.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "NEIL1",
"hgnc_id": 18448,
"hgvs_c": "c.*1607C>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_024608.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1217,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3302566111087799,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "R",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": 2726,
"cds_end": null,
"cds_length": 3123,
"cds_start": 2702,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_006715.4",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2702G>T",
"hgvs_p": "p.Arg901Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000267978.10",
"protein_coding": true,
"protein_id": "NP_006706.2",
"strand": false,
"transcript": "NM_006715.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "R",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": 2726,
"cds_end": null,
"cds_length": 3123,
"cds_start": 2702,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000267978.10",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2702G>T",
"hgvs_p": "p.Arg901Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006715.4",
"protein_coding": true,
"protein_id": "ENSP00000267978.4",
"strand": false,
"transcript": "ENST00000267978.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1057,
"aa_ref": "R",
"aa_start": 918,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": 2765,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2753,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000565683.5",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Arg918Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457788.1",
"strand": false,
"transcript": "ENST00000565683.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "R",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": 2711,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2702,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000569482.5",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2702G>T",
"hgvs_p": "p.Arg901Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455998.1",
"strand": false,
"transcript": "ENST00000569482.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 941,
"aa_ref": "R",
"aa_start": 802,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": 2426,
"cds_end": null,
"cds_length": 2826,
"cds_start": 2405,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000563622.5",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2405G>T",
"hgvs_p": "p.Arg802Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454589.1",
"strand": false,
"transcript": "ENST00000563622.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 390,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3711,
"cdna_start": null,
"cds_end": null,
"cds_length": 1173,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_024608.4",
"gene_hgnc_id": 18448,
"gene_symbol": "NEIL1",
"hgvs_c": "c.*1607C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355059.9",
"protein_coding": true,
"protein_id": "NP_078884.2",
"strand": true,
"transcript": "NM_024608.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 390,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3711,
"cdna_start": null,
"cds_end": null,
"cds_length": 1173,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000355059.9",
"gene_hgnc_id": 18448,
"gene_symbol": "NEIL1",
"hgvs_c": "c.*1607C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024608.4",
"protein_coding": true,
"protein_id": "ENSP00000347170.4",
"strand": true,
"transcript": "ENST00000355059.9",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1074,
"aa_ref": "R",
"aa_start": 935,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": 2828,
"cds_end": null,
"cds_length": 3225,
"cds_start": 2804,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000854693.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2804G>T",
"hgvs_p": "p.Arg935Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524752.1",
"strand": false,
"transcript": "ENST00000854693.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "R",
"aa_start": 927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3353,
"cdna_start": 2818,
"cds_end": null,
"cds_length": 3201,
"cds_start": 2780,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000854682.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2780G>T",
"hgvs_p": "p.Arg927Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524741.1",
"strand": false,
"transcript": "ENST00000854682.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1065,
"aa_ref": "R",
"aa_start": 918,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3350,
"cdna_start": 2794,
"cds_end": null,
"cds_length": 3198,
"cds_start": 2753,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000964304.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Arg918Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634363.1",
"strand": false,
"transcript": "ENST00000964304.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1061,
"aa_ref": "R",
"aa_start": 914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3315,
"cdna_start": 2758,
"cds_end": null,
"cds_length": 3186,
"cds_start": 2741,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000964320.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2741G>T",
"hgvs_p": "p.Arg914Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634379.1",
"strand": false,
"transcript": "ENST00000964320.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "R",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3328,
"cdna_start": 2736,
"cds_end": null,
"cds_length": 3180,
"cds_start": 2702,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000854686.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2702G>T",
"hgvs_p": "p.Arg901Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524745.1",
"strand": false,
"transcript": "ENST00000854686.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1058,
"aa_ref": "R",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3313,
"cdna_start": 2778,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2756,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000854698.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2756G>T",
"hgvs_p": "p.Arg919Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524757.1",
"strand": false,
"transcript": "ENST00000854698.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1057,
"aa_ref": "R",
"aa_start": 918,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3312,
"cdna_start": 2777,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2753,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001256494.2",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Arg918Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243423.1",
"strand": false,
"transcript": "NM_001256494.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1054,
"aa_ref": "R",
"aa_start": 915,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3294,
"cdna_start": 2761,
"cds_end": null,
"cds_length": 3165,
"cds_start": 2744,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000964318.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2744G>T",
"hgvs_p": "p.Arg915Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634377.1",
"strand": false,
"transcript": "ENST00000964318.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "R",
"aa_start": 914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3293,
"cdna_start": 2758,
"cds_end": null,
"cds_length": 3162,
"cds_start": 2741,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000854704.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2741G>T",
"hgvs_p": "p.Arg914Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524763.1",
"strand": false,
"transcript": "ENST00000854704.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1052,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3308,
"cdna_start": 2773,
"cds_end": null,
"cds_length": 3159,
"cds_start": 2738,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000854683.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2738G>T",
"hgvs_p": "p.Arg913Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524742.1",
"strand": false,
"transcript": "ENST00000854683.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1052,
"aa_ref": "R",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3295,
"cdna_start": 2760,
"cds_end": null,
"cds_length": 3159,
"cds_start": 2738,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000854697.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2738G>T",
"hgvs_p": "p.Arg913Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524756.1",
"strand": false,
"transcript": "ENST00000854697.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1050,
"aa_ref": "R",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3291,
"cdna_start": 2756,
"cds_end": null,
"cds_length": 3153,
"cds_start": 2732,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000854695.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2732G>T",
"hgvs_p": "p.Arg911Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524754.1",
"strand": false,
"transcript": "ENST00000854695.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1050,
"aa_ref": "R",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3284,
"cdna_start": 2749,
"cds_end": null,
"cds_length": 3153,
"cds_start": 2732,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000854702.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2732G>T",
"hgvs_p": "p.Arg911Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524761.1",
"strand": false,
"transcript": "ENST00000854702.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1048,
"aa_ref": "R",
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