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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: 19-12655830-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12655830&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAN2B1",
"hgnc_id": 6826,
"hgvs_c": "c.1697T>C",
"hgvs_p": "p.Leu566Pro",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_001440570.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PP3_Strong,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.7972,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.36,
"chr": "19",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Deficiency of alpha-mannosidase",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9627076387405396,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "L",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 1735,
"cds_end": null,
"cds_length": 3036,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_000528.4",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1694T>C",
"hgvs_p": "p.Leu565Pro",
"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": "P",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "L",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 1735,
"cds_end": null,
"cds_length": 3036,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000456935.7",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1694T>C",
"hgvs_p": "p.Leu565Pro",
"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": "P",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "L",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5855,
"cdna_start": 1724,
"cds_end": null,
"cds_length": 3033,
"cds_start": 1691,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000221363.9",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1691T>C",
"hgvs_p": "p.Leu564Pro",
"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": "P",
"aa_end": null,
"aa_length": 1027,
"aa_ref": "L",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3213,
"cdna_start": 1766,
"cds_end": null,
"cds_length": 3084,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000964003.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1742T>C",
"hgvs_p": "p.Leu581Pro",
"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": "P",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "L",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": 1738,
"cds_end": null,
"cds_length": 3039,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001440570.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1697T>C",
"hgvs_p": "p.Leu566Pro",
"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": "P",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "L",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3217,
"cdna_start": 1754,
"cds_end": null,
"cds_length": 3039,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000858849.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1697T>C",
"hgvs_p": "p.Leu566Pro",
"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": "P",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "L",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": 1732,
"cds_end": null,
"cds_length": 3033,
"cds_start": 1691,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001173498.2",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1691T>C",
"hgvs_p": "p.Leu564Pro",
"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": "P",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "L",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": 1729,
"cds_end": null,
"cds_length": 3030,
"cds_start": 1688,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000963998.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1688T>C",
"hgvs_p": "p.Leu563Pro",
"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": "P",
"aa_end": null,
"aa_length": 1007,
"aa_ref": "L",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": 1738,
"cds_end": null,
"cds_length": 3024,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000963997.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Leu561Pro",
"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": "P",
"aa_end": null,
"aa_length": 1000,
"aa_ref": "L",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3117,
"cdna_start": 1709,
"cds_end": null,
"cds_length": 3003,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000858857.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1694T>C",
"hgvs_p": "p.Leu565Pro",
"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": "P",
"aa_end": null,
"aa_length": 994,
"aa_ref": "L",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3131,
"cdna_start": 1735,
"cds_end": null,
"cds_length": 2985,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000935810.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1694T>C",
"hgvs_p": "p.Leu565Pro",
"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": "P",
"aa_end": null,
"aa_length": 989,
"aa_ref": "L",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3113,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 2970,
"cds_start": 1628,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000858853.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1628T>C",
"hgvs_p": "p.Leu543Pro",
"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": "L",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3117,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 2967,
"cds_start": 1625,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000858851.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1625T>C",
"hgvs_p": "p.Leu542Pro",
"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": "P",
"aa_end": null,
"aa_length": 988,
"aa_ref": "L",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3117,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 2967,
"cds_start": 1625,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000963999.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1625T>C",
"hgvs_p": "p.Leu542Pro",
"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": "P",
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"aa_length": 984,
"aa_ref": "L",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": 1730,
"cds_end": null,
"cds_length": 2955,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000858852.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1694T>C",
"hgvs_p": "p.Leu565Pro",
"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": "P",
"aa_end": null,
"aa_length": 977,
"aa_ref": "L",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 2934,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000935811.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1694T>C",
"hgvs_p": "p.Leu565Pro",
"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": "P",
"aa_end": null,
"aa_length": 973,
"aa_ref": "L",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 2922,
"cds_start": 1580,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000935809.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1580T>C",
"hgvs_p": "p.Leu527Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605868.1",
"strand": false,
"transcript": "ENST00000935809.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1634,
"cds_end": null,
"cds_length": 2919,
"cds_start": 1577,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000858850.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1577T>C",
"hgvs_p": "p.Leu526Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528909.1",
"strand": false,
"transcript": "ENST00000858850.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1738,
"cds_end": null,
"cds_length": 2883,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000964001.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1697T>C",
"hgvs_p": "p.Leu566Pro",
"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": "P",
"aa_end": null,
"aa_length": 959,
"aa_ref": "L",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 1733,
"cds_end": null,
"cds_length": 2880,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000858854.1",
"gene_hgnc_id": 6826,
"gene_symbol": "MAN2B1",
"hgvs_c": "c.1694T>C",
"hgvs_p": "p.Leu565Pro",
"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": "P",
"aa_end": null,
"aa_length": 939,
"aa_ref": "L",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2939,
"cdna_start": 1705,
"cds_end": null,
"cds_length": 2820,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
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