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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: 18-23928148-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23928148&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "LAMA3",
"hgnc_id": 6483,
"hgvs_c": "c.8203C>T",
"hgvs_p": "p.Arg2735*",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_198129.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 19,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.54,
"chr": "18",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": " junctional 2B, severe,Epidermolysis bullosa,Junctional epidermolysis bullosa,Junctional epidermolysis bullosa gravis of Herlitz,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5400000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 3333,
"aa_ref": "R",
"aa_start": 2735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10651,
"cdna_start": 8434,
"cds_end": null,
"cds_length": 10002,
"cds_start": 8203,
"consequences": [
"stop_gained"
],
"exon_count": 75,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "NM_198129.4",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.8203C>T",
"hgvs_p": "p.Arg2735*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000313654.14",
"protein_coding": true,
"protein_id": "NP_937762.2",
"strand": true,
"transcript": "NM_198129.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 3333,
"aa_ref": "R",
"aa_start": 2735,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10651,
"cdna_start": 8434,
"cds_end": null,
"cds_length": 10002,
"cds_start": 8203,
"consequences": [
"stop_gained"
],
"exon_count": 75,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "ENST00000313654.14",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.8203C>T",
"hgvs_p": "p.Arg2735*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198129.4",
"protein_coding": true,
"protein_id": "ENSP00000324532.8",
"strand": true,
"transcript": "ENST00000313654.14",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1724,
"aa_ref": "R",
"aa_start": 1126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5618,
"cdna_start": 3401,
"cds_end": null,
"cds_length": 5175,
"cds_start": 3376,
"consequences": [
"stop_gained"
],
"exon_count": 38,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_000227.6",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.3376C>T",
"hgvs_p": "p.Arg1126*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000269217.11",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000218.3",
"strand": true,
"transcript": "NM_000227.6",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1724,
"aa_ref": "R",
"aa_start": 1126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5618,
"cdna_start": 3401,
"cds_end": null,
"cds_length": 5175,
"cds_start": 3376,
"consequences": [
"stop_gained"
],
"exon_count": 38,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000269217.11",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.3376C>T",
"hgvs_p": "p.Arg1126*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_000227.6",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000269217.5",
"strand": true,
"transcript": "ENST00000269217.11",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 3277,
"aa_ref": "R",
"aa_start": 2679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9834,
"cdna_start": 8035,
"cds_end": null,
"cds_length": 9834,
"cds_start": 8035,
"consequences": [
"stop_gained"
],
"exon_count": 74,
"exon_rank": 62,
"exon_rank_end": null,
"feature": "ENST00000399516.7",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.8035C>T",
"hgvs_p": "p.Arg2679*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382432.2",
"strand": true,
"transcript": "ENST00000399516.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1668,
"aa_ref": "R",
"aa_start": 1070,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5007,
"cdna_start": 3208,
"cds_end": null,
"cds_length": 5007,
"cds_start": 3208,
"consequences": [
"stop_gained"
],
"exon_count": 37,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000587184.5",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.3208C>T",
"hgvs_p": "p.Arg1070*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466557.1",
"strand": true,
"transcript": "ENST00000587184.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1146,
"aa_ref": "R",
"aa_start": 994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3494,
"cdna_start": 2981,
"cds_end": null,
"cds_length": 3441,
"cds_start": 2980,
"consequences": [
"stop_gained"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000586751.5",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.2980C>T",
"hgvs_p": "p.Arg994*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464836.1",
"strand": true,
"transcript": "ENST00000586751.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4921,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000588770.5",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "n.2781C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000588770.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 3277,
"aa_ref": "R",
"aa_start": 2679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10483,
"cdna_start": 8266,
"cds_end": null,
"cds_length": 9834,
"cds_start": 8035,
"consequences": [
"stop_gained"
],
"exon_count": 74,
"exon_rank": 62,
"exon_rank_end": null,
"feature": "NM_001127717.4",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.8035C>T",
"hgvs_p": "p.Arg2679*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121189.2",
"strand": true,
"transcript": "NM_001127717.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2198,
"aa_ref": "R",
"aa_start": 1600,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8171,
"cdna_start": 4798,
"cds_end": null,
"cds_length": 6597,
"cds_start": 4798,
"consequences": [
"stop_gained"
],
"exon_count": 48,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000649721.1",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.4798C>T",
"hgvs_p": "p.Arg1600*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497885.1",
"strand": true,
"transcript": "ENST00000649721.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1668,
"aa_ref": "R",
"aa_start": 1070,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5450,
"cdna_start": 3233,
"cds_end": null,
"cds_length": 5007,
"cds_start": 3208,
"consequences": [
"stop_gained"
],
"exon_count": 37,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001127718.4",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.3208C>T",
"hgvs_p": "p.Arg1070*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121190.2",
"strand": true,
"transcript": "NM_001127718.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 3342,
"aa_ref": "R",
"aa_start": 2744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10678,
"cdna_start": 8461,
"cds_end": null,
"cds_length": 10029,
"cds_start": 8230,
"consequences": [
"stop_gained"
],
"exon_count": 75,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "XM_011525978.3",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.8230C>T",
"hgvs_p": "p.Arg2744*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524280.1",
"strand": true,
"transcript": "XM_011525978.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 3339,
"aa_ref": "R",
"aa_start": 2741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10669,
"cdna_start": 8452,
"cds_end": null,
"cds_length": 10020,
"cds_start": 8221,
"consequences": [
"stop_gained"
],
"exon_count": 75,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "XM_011525979.3",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.8221C>T",
"hgvs_p": "p.Arg2741*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524281.1",
"strand": true,
"transcript": "XM_011525979.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 3336,
"aa_ref": "R",
"aa_start": 2738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10660,
"cdna_start": 8443,
"cds_end": null,
"cds_length": 10011,
"cds_start": 8212,
"consequences": [
"stop_gained"
],
"exon_count": 75,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "XM_011525980.3",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.8212C>T",
"hgvs_p": "p.Arg2738*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524282.1",
"strand": true,
"transcript": "XM_011525980.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 3298,
"aa_ref": "R",
"aa_start": 2700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10546,
"cdna_start": 8329,
"cds_end": null,
"cds_length": 9897,
"cds_start": 8098,
"consequences": [
"stop_gained"
],
"exon_count": 74,
"exon_rank": 62,
"exon_rank_end": null,
"feature": "XM_011525981.3",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.8098C>T",
"hgvs_p": "p.Arg2700*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524283.1",
"strand": true,
"transcript": "XM_011525981.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 3295,
"aa_ref": "R",
"aa_start": 2697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10537,
"cdna_start": 8320,
"cds_end": null,
"cds_length": 9888,
"cds_start": 8089,
"consequences": [
"stop_gained"
],
"exon_count": 74,
"exon_rank": 62,
"exon_rank_end": null,
"feature": "XM_047437503.1",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.8089C>T",
"hgvs_p": "p.Arg2697*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293459.1",
"strand": true,
"transcript": "XM_047437503.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 3289,
"aa_ref": "R",
"aa_start": 2691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10519,
"cdna_start": 8302,
"cds_end": null,
"cds_length": 9870,
"cds_start": 8071,
"consequences": [
"stop_gained"
],
"exon_count": 74,
"exon_rank": 62,
"exon_rank_end": null,
"feature": "XM_047437504.1",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.8071C>T",
"hgvs_p": "p.Arg2691*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293460.1",
"strand": true,
"transcript": "XM_047437504.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 3259,
"aa_ref": "R",
"aa_start": 2744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10091,
"cdna_start": 8461,
"cds_end": null,
"cds_length": 9780,
"cds_start": 8230,
"consequences": [
"stop_gained"
],
"exon_count": 74,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "XM_047437505.1",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.8230C>T",
"hgvs_p": "p.Arg2744*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293461.1",
"strand": true,
"transcript": "XM_047437505.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 3243,
"aa_ref": "R",
"aa_start": 2645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10381,
"cdna_start": 8164,
"cds_end": null,
"cds_length": 9732,
"cds_start": 7933,
"consequences": [
"stop_gained"
],
"exon_count": 73,
"exon_rank": 61,
"exon_rank_end": null,
"feature": "XM_011525982.3",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.7933C>T",
"hgvs_p": "p.Arg2645*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524284.1",
"strand": true,
"transcript": "XM_011525982.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 3234,
"aa_ref": "R",
"aa_start": 2636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10354,
"cdna_start": 8137,
"cds_end": null,
"cds_length": 9705,
"cds_start": 7906,
"consequences": [
"stop_gained"
],
"exon_count": 73,
"exon_rank": 61,
"exon_rank_end": null,
"feature": "XM_047437506.1",
"gene_hgnc_id": 6483,
"gene_symbol": "LAMA3",
"hgvs_c": "c.7906C>T",
"hgvs_p": "p.Arg2636*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293462.1",
"strand": true,
"transcript": "XM_047437506.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2626,
"aa_ref": "R",
"aa_start": 2028,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8372,
"cdna_start": 6155,
"cds_end": null,
"cds_length": 7881,
"cds_start": 6082,
"consequences": [
"stop_gained"
],
"exon_count": 58,
"exon_rank": 46,
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"feature": "XM_017025743.1",
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}