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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: 19-12646662-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12646662&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MAN2B1",
"hgnc_id": 6826,
"hgvs_c": "c.2997C>T",
"hgvs_p": "p.Arg999Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_001440570.1",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000269242",
"hgnc_id": null,
"hgvs_c": "n.552C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -4,
"transcript": "ENST00000597692.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "19",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Deficiency of alpha-mannosidase",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.49000000953674316,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "R",
"aa_start": 998,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 3035,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2994,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_000528.4",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2994C>T",
"hgvs_p": "p.Arg998Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000456935.7",
"protein_coding": true,
"protein_id": "NP_000519.2",
"strand": false,
"transcript": "NM_000528.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "R",
"aa_start": 998,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 3035,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2994,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000456935.7",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2994C>T",
"hgvs_p": "p.Arg998Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000528.4",
"protein_coding": true,
"protein_id": "ENSP00000395473.2",
"strand": false,
"transcript": "ENST00000456935.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "R",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5855,
"cdna_start": 3024,
"cds_end": null,
"cds_length": 3033,
"cds_start": 2991,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000221363.9",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2991C>T",
"hgvs_p": "p.Arg997Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000221363.4",
"strand": false,
"transcript": "ENST00000221363.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 838,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000597692.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000269242",
"hgvs_c": "n.552C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000470240.1",
"strand": false,
"transcript": "ENST00000597692.1",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1027,
"aa_ref": "R",
"aa_start": 1014,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3213,
"cdna_start": 3066,
"cds_end": null,
"cds_length": 3084,
"cds_start": 3042,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000964003.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.3042C>T",
"hgvs_p": "p.Arg1014Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634062.1",
"strand": false,
"transcript": "ENST00000964003.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "R",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": 3038,
"cds_end": null,
"cds_length": 3039,
"cds_start": 2997,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001440570.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2997C>T",
"hgvs_p": "p.Arg999Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427499.1",
"strand": false,
"transcript": "NM_001440570.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "R",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3217,
"cdna_start": 3054,
"cds_end": null,
"cds_length": 3039,
"cds_start": 2997,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000858849.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2997C>T",
"hgvs_p": "p.Arg999Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528908.1",
"strand": false,
"transcript": "ENST00000858849.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "R",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": 3032,
"cds_end": null,
"cds_length": 3033,
"cds_start": 2991,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001173498.2",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2991C>T",
"hgvs_p": "p.Arg997Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166969.1",
"strand": false,
"transcript": "NM_001173498.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "R",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": 3029,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2988,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000963998.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2988C>T",
"hgvs_p": "p.Arg996Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634057.1",
"strand": false,
"transcript": "ENST00000963998.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1007,
"aa_ref": "R",
"aa_start": 994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": 3038,
"cds_end": null,
"cds_length": 3024,
"cds_start": 2982,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000963997.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2982C>T",
"hgvs_p": "p.Arg994Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634056.1",
"strand": false,
"transcript": "ENST00000963997.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1000,
"aa_ref": "R",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3117,
"cdna_start": 2976,
"cds_end": null,
"cds_length": 3003,
"cds_start": 2961,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000858857.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2961C>T",
"hgvs_p": "p.Arg987Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528916.1",
"strand": false,
"transcript": "ENST00000858857.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 994,
"aa_ref": "R",
"aa_start": 981,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3131,
"cdna_start": 2984,
"cds_end": null,
"cds_length": 2985,
"cds_start": 2943,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000935810.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2943C>T",
"hgvs_p": "p.Arg981Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605869.1",
"strand": false,
"transcript": "ENST00000935810.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 989,
"aa_ref": "R",
"aa_start": 976,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3113,
"cdna_start": 2963,
"cds_end": null,
"cds_length": 2970,
"cds_start": 2928,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000858853.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2928C>T",
"hgvs_p": "p.Arg976Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528912.1",
"strand": false,
"transcript": "ENST00000858853.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 988,
"aa_ref": "R",
"aa_start": 975,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3117,
"cdna_start": 2966,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2925,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000858851.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2925C>T",
"hgvs_p": "p.Arg975Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528910.1",
"strand": false,
"transcript": "ENST00000858851.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 988,
"aa_ref": "R",
"aa_start": 975,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3117,
"cdna_start": 2966,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2925,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000963999.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2925C>T",
"hgvs_p": "p.Arg975Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634058.1",
"strand": false,
"transcript": "ENST00000963999.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 984,
"aa_ref": "R",
"aa_start": 971,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": 2949,
"cds_end": null,
"cds_length": 2955,
"cds_start": 2913,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000858852.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2913C>T",
"hgvs_p": "p.Arg971Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528911.1",
"strand": false,
"transcript": "ENST00000858852.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 977,
"aa_ref": "R",
"aa_start": 964,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 2896,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2892,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000935811.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2892C>T",
"hgvs_p": "p.Arg964Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605870.1",
"strand": false,
"transcript": "ENST00000935811.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 973,
"aa_ref": "R",
"aa_start": 960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": 2937,
"cds_end": null,
"cds_length": 2922,
"cds_start": 2880,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000935809.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2880C>T",
"hgvs_p": "p.Arg960Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605868.1",
"strand": false,
"transcript": "ENST00000935809.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 972,
"aa_ref": "R",
"aa_start": 959,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3096,
"cdna_start": 2934,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2877,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000858850.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2877C>T",
"hgvs_p": "p.Arg959Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528909.1",
"strand": false,
"transcript": "ENST00000858850.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 960,
"aa_ref": "R",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3029,
"cdna_start": 2882,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2841,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000964001.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2841C>T",
"hgvs_p": "p.Arg947Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634060.1",
"strand": false,
"transcript": "ENST00000964001.1",
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