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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: 9-137108388-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137108388&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "MAN1B1",
"hgnc_id": 6823,
"hgvs_c": "c.1897G>A",
"hgvs_p": "p.Val633Ile",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_016219.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 10,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0742,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.44607430696487427,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 699,
"aa_ref": "V",
"aa_start": 633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2707,
"cdna_start": 1912,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1897,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_016219.5",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1897G>A",
"hgvs_p": "p.Val633Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371589.9",
"protein_coding": true,
"protein_id": "NP_057303.2",
"strand": true,
"transcript": "NM_016219.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 699,
"aa_ref": "V",
"aa_start": 633,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2707,
"cdna_start": 1912,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1897,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000371589.9",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1897G>A",
"hgvs_p": "p.Val633Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016219.5",
"protein_coding": true,
"protein_id": "ENSP00000360645.4",
"strand": true,
"transcript": "ENST00000371589.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2816,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000371587.9",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "n.*1574G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483132.2",
"strand": true,
"transcript": "ENST00000371587.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2816,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000371587.9",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "n.*1574G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483132.2",
"strand": true,
"transcript": "ENST00000371587.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000544448.6",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "n.*219-39G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000444966.2",
"strand": true,
"transcript": "ENST00000544448.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 726,
"aa_ref": "V",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2801,
"cdna_start": 2009,
"cds_end": null,
"cds_length": 2181,
"cds_start": 1978,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000877685.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Val660Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547744.1",
"strand": true,
"transcript": "ENST00000877685.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 722,
"aa_ref": "V",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 1982,
"cds_end": null,
"cds_length": 2169,
"cds_start": 1966,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000877687.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1966G>A",
"hgvs_p": "p.Val656Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547746.1",
"strand": true,
"transcript": "ENST00000877687.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 717,
"aa_ref": "V",
"aa_start": 651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2795,
"cdna_start": 1996,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1951,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000916528.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1951G>A",
"hgvs_p": "p.Val651Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586587.1",
"strand": true,
"transcript": "ENST00000916528.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 698,
"aa_ref": "V",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2801,
"cdna_start": 2024,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1894,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000683324.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1894G>A",
"hgvs_p": "p.Val632Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507373.1",
"strand": true,
"transcript": "ENST00000683324.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 698,
"aa_ref": "V",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2806,
"cdna_start": 2007,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1894,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000916526.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1894G>A",
"hgvs_p": "p.Val632Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586585.1",
"strand": true,
"transcript": "ENST00000916526.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 698,
"aa_ref": "V",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2740,
"cdna_start": 1947,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1894,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000916527.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1894G>A",
"hgvs_p": "p.Val632Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586586.1",
"strand": true,
"transcript": "ENST00000916527.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 697,
"aa_ref": "V",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": 1906,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1891,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000684144.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1891G>A",
"hgvs_p": "p.Val631Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508213.1",
"strand": true,
"transcript": "ENST00000684144.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 697,
"aa_ref": "V",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2717,
"cdna_start": 1922,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1891,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000916531.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1891G>A",
"hgvs_p": "p.Val631Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586590.1",
"strand": true,
"transcript": "ENST00000916531.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 680,
"aa_ref": "V",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2667,
"cdna_start": 1875,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1840,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000877684.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1840G>A",
"hgvs_p": "p.Val614Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547743.1",
"strand": true,
"transcript": "ENST00000877684.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 678,
"aa_ref": "V",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2664,
"cdna_start": 1865,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1834,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000916530.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Val612Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586589.1",
"strand": true,
"transcript": "ENST00000916530.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 675,
"aa_ref": "V",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 1870,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1825,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000916529.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1825G>A",
"hgvs_p": "p.Val609Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586588.1",
"strand": true,
"transcript": "ENST00000916529.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 663,
"aa_ref": "V",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2612,
"cdna_start": 1820,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1789,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000877686.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Val597Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547745.1",
"strand": true,
"transcript": "ENST00000877686.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 655,
"aa_ref": "V",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2573,
"cdna_start": 1780,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1765,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000946891.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1765G>A",
"hgvs_p": "p.Val589Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616950.1",
"strand": true,
"transcript": "ENST00000946891.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 648,
"aa_ref": "G",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 1901,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1886,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000683987.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1886G>A",
"hgvs_p": "p.Gly629Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507715.1",
"strand": true,
"transcript": "ENST00000683987.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 637,
"aa_ref": "V",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2521,
"cdna_start": 1726,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1711,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000475449.7",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Val571Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448658.2",
"strand": true,
"transcript": "ENST00000475449.7",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 636,
"aa_ref": "V",
"aa_start": 570,
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