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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: 19-12648277-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12648277&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.2565C>T",
"hgvs_p": "p.Ala855Ala",
"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.120C>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": 34,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"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": -0.8100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "A",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 2603,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2562,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_000528.4",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2562C>T",
"hgvs_p": "p.Ala854Ala",
"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": "A",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "A",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 2603,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2562,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000456935.7",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2562C>T",
"hgvs_p": "p.Ala854Ala",
"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": "A",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "A",
"aa_start": 853,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5855,
"cdna_start": 2592,
"cds_end": null,
"cds_length": 3033,
"cds_start": 2559,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000221363.9",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2559C>T",
"hgvs_p": "p.Ala853Ala",
"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": 1,
"exon_rank_end": null,
"feature": "ENST00000597692.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000269242",
"hgvs_c": "n.120C>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": "A",
"aa_end": null,
"aa_length": 1027,
"aa_ref": "A",
"aa_start": 870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3213,
"cdna_start": 2634,
"cds_end": null,
"cds_length": 3084,
"cds_start": 2610,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000964003.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2610C>T",
"hgvs_p": "p.Ala870Ala",
"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": "A",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "A",
"aa_start": 855,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": 2606,
"cds_end": null,
"cds_length": 3039,
"cds_start": 2565,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001440570.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2565C>T",
"hgvs_p": "p.Ala855Ala",
"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": "A",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "A",
"aa_start": 855,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3217,
"cdna_start": 2622,
"cds_end": null,
"cds_length": 3039,
"cds_start": 2565,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000858849.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2565C>T",
"hgvs_p": "p.Ala855Ala",
"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": "A",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "A",
"aa_start": 853,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": 2600,
"cds_end": null,
"cds_length": 3033,
"cds_start": 2559,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001173498.2",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2559C>T",
"hgvs_p": "p.Ala853Ala",
"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": "A",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "A",
"aa_start": 852,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": 2597,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2556,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000963998.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2556C>T",
"hgvs_p": "p.Ala852Ala",
"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": "A",
"aa_end": null,
"aa_length": 1007,
"aa_ref": "A",
"aa_start": 850,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": 2606,
"cds_end": null,
"cds_length": 3024,
"cds_start": 2550,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000963997.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2550C>T",
"hgvs_p": "p.Ala850Ala",
"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": "A",
"aa_end": null,
"aa_length": 1000,
"aa_ref": "A",
"aa_start": 843,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3117,
"cdna_start": 2544,
"cds_end": null,
"cds_length": 3003,
"cds_start": 2529,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000858857.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2529C>T",
"hgvs_p": "p.Ala843Ala",
"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": "A",
"aa_end": null,
"aa_length": 994,
"aa_ref": "A",
"aa_start": 837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3131,
"cdna_start": 2552,
"cds_end": null,
"cds_length": 2985,
"cds_start": 2511,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000935810.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2511C>T",
"hgvs_p": "p.Ala837Ala",
"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": "A",
"aa_end": null,
"aa_length": 989,
"aa_ref": "A",
"aa_start": 832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3113,
"cdna_start": 2531,
"cds_end": null,
"cds_length": 2970,
"cds_start": 2496,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000858853.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2496C>T",
"hgvs_p": "p.Ala832Ala",
"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": "A",
"aa_end": null,
"aa_length": 988,
"aa_ref": "A",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3117,
"cdna_start": 2534,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2493,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000858851.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2493C>T",
"hgvs_p": "p.Ala831Ala",
"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": "A",
"aa_end": null,
"aa_length": 988,
"aa_ref": "A",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3117,
"cdna_start": 2534,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2493,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000963999.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2493C>T",
"hgvs_p": "p.Ala831Ala",
"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": "A",
"aa_end": null,
"aa_length": 984,
"aa_ref": "A",
"aa_start": 827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": 2517,
"cds_end": null,
"cds_length": 2955,
"cds_start": 2481,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000858852.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2481C>T",
"hgvs_p": "p.Ala827Ala",
"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": "A",
"aa_end": null,
"aa_length": 977,
"aa_ref": "A",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 2464,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2460,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000935811.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2460C>T",
"hgvs_p": "p.Ala820Ala",
"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": "A",
"aa_end": null,
"aa_length": 973,
"aa_ref": "A",
"aa_start": 816,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": 2505,
"cds_end": null,
"cds_length": 2922,
"cds_start": 2448,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000935809.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2448C>T",
"hgvs_p": "p.Ala816Ala",
"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": "A",
"aa_end": null,
"aa_length": 972,
"aa_ref": "A",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3096,
"cdna_start": 2502,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2445,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000858850.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2445C>T",
"hgvs_p": "p.Ala815Ala",
"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": "A",
"aa_end": null,
"aa_length": 960,
"aa_ref": "A",
"aa_start": 855,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3029,
"cdna_start": 2606,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2565,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000964001.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2565C>T",
"hgvs_p": "p.Ala855Ala",
"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",
"transcript_support_level": null
},
{
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