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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: 19-12650168-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12650168&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAN2B1",
"hgnc_id": 6826,
"hgvs_c": "c.2104G>A",
"hgvs_p": "p.Val702Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001440570.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.0682,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Deficiency of alpha-mannosidase",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.17082855105400085,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "V",
"aa_start": 701,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 2142,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2101,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_000528.4",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2101G>A",
"hgvs_p": "p.Val701Ile",
"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": "I",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "V",
"aa_start": 701,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 2142,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2101,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000456935.7",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2101G>A",
"hgvs_p": "p.Val701Ile",
"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": "I",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "V",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5855,
"cdna_start": 2131,
"cds_end": null,
"cds_length": 3033,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000221363.9",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2098G>A",
"hgvs_p": "p.Val700Ile",
"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": "I",
"aa_end": null,
"aa_length": 1027,
"aa_ref": "V",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3213,
"cdna_start": 2173,
"cds_end": null,
"cds_length": 3084,
"cds_start": 2149,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000964003.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2149G>A",
"hgvs_p": "p.Val717Ile",
"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": "I",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "V",
"aa_start": 702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": 2145,
"cds_end": null,
"cds_length": 3039,
"cds_start": 2104,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001440570.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2104G>A",
"hgvs_p": "p.Val702Ile",
"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": "I",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "V",
"aa_start": 702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3217,
"cdna_start": 2161,
"cds_end": null,
"cds_length": 3039,
"cds_start": 2104,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000858849.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2104G>A",
"hgvs_p": "p.Val702Ile",
"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": "I",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "V",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": 2139,
"cds_end": null,
"cds_length": 3033,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001173498.2",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2098G>A",
"hgvs_p": "p.Val700Ile",
"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": "I",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "V",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": 2136,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2095,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000963998.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2095G>A",
"hgvs_p": "p.Val699Ile",
"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": "I",
"aa_end": null,
"aa_length": 1007,
"aa_ref": "V",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": 2145,
"cds_end": null,
"cds_length": 3024,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000963997.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2089G>A",
"hgvs_p": "p.Val697Ile",
"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": "I",
"aa_end": null,
"aa_length": 1000,
"aa_ref": "V",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3117,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 3003,
"cds_start": 2068,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000858857.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Val690Ile",
"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": "I",
"aa_end": null,
"aa_length": 994,
"aa_ref": "V",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3131,
"cdna_start": 2091,
"cds_end": null,
"cds_length": 2985,
"cds_start": 2050,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000935810.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Val684Ile",
"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": "I",
"aa_end": null,
"aa_length": 989,
"aa_ref": "V",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3113,
"cdna_start": 2070,
"cds_end": null,
"cds_length": 2970,
"cds_start": 2035,
"consequences": [
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],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000858853.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2035G>A",
"hgvs_p": "p.Val679Ile",
"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
},
{
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"aa_length": 988,
"aa_ref": "V",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3117,
"cdna_start": 2073,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2032,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000858851.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2032G>A",
"hgvs_p": "p.Val678Ile",
"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": "I",
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"aa_length": 988,
"aa_ref": "V",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3117,
"cdna_start": 2073,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2032,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000963999.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2032G>A",
"hgvs_p": "p.Val678Ile",
"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": "I",
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"aa_length": 984,
"aa_ref": "V",
"aa_start": 701,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": 2137,
"cds_end": null,
"cds_length": 2955,
"cds_start": 2101,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000858852.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2101G>A",
"hgvs_p": "p.Val701Ile",
"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": "I",
"aa_end": null,
"aa_length": 977,
"aa_ref": "V",
"aa_start": 701,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 2105,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2101,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000935811.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2101G>A",
"hgvs_p": "p.Val701Ile",
"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": "I",
"aa_end": null,
"aa_length": 973,
"aa_ref": "V",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": 2044,
"cds_end": null,
"cds_length": 2922,
"cds_start": 1987,
"consequences": [
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],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000935809.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Val663Ile",
"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": "I",
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"aa_length": 972,
"aa_ref": "V",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3096,
"cdna_start": 2041,
"cds_end": null,
"cds_length": 2919,
"cds_start": 1984,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000858850.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1984G>A",
"hgvs_p": "p.Val662Ile",
"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": "I",
"aa_end": null,
"aa_length": 960,
"aa_ref": "V",
"aa_start": 702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3029,
"cdna_start": 2145,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2104,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000964001.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2104G>A",
"hgvs_p": "p.Val702Ile",
"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
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 959,
"aa_ref": "V",
"aa_start": 701,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 2140,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2101,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000858854.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.2101G>A",
"hgvs_p": "p.Val701Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528913.1",
"strand": false,
"transcript": "ENST00000858854.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 949,
"aa_ref": "V",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2994,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 2850,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
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