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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: 18-23933924-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23933924&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 23933924,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_198129.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8851C>T",
"hgvs_p": "p.Arg2951Cys",
"transcript": "NM_198129.4",
"protein_id": "NP_937762.2",
"transcript_support_level": null,
"aa_start": 2951,
"aa_end": null,
"aa_length": 3333,
"cds_start": 8851,
"cds_end": null,
"cds_length": 10002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313654.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198129.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8851C>T",
"hgvs_p": "p.Arg2951Cys",
"transcript": "ENST00000313654.14",
"protein_id": "ENSP00000324532.8",
"transcript_support_level": 1,
"aa_start": 2951,
"aa_end": null,
"aa_length": 3333,
"cds_start": 8851,
"cds_end": null,
"cds_length": 10002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198129.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313654.14"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.4024C>T",
"hgvs_p": "p.Arg1342Cys",
"transcript": "NM_000227.6",
"protein_id": "NP_000218.3",
"transcript_support_level": null,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1724,
"cds_start": 4024,
"cds_end": null,
"cds_length": 5175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000269217.11",
"biotype": "protein_coding",
"feature": "NM_000227.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.4024C>T",
"hgvs_p": "p.Arg1342Cys",
"transcript": "ENST00000269217.11",
"protein_id": "ENSP00000269217.5",
"transcript_support_level": 1,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1724,
"cds_start": 4024,
"cds_end": null,
"cds_length": 5175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_000227.6",
"biotype": "protein_coding",
"feature": "ENST00000269217.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8683C>T",
"hgvs_p": "p.Arg2895Cys",
"transcript": "ENST00000399516.7",
"protein_id": "ENSP00000382432.2",
"transcript_support_level": 1,
"aa_start": 2895,
"aa_end": null,
"aa_length": 3277,
"cds_start": 8683,
"cds_end": null,
"cds_length": 9834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399516.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.3856C>T",
"hgvs_p": "p.Arg1286Cys",
"transcript": "ENST00000587184.5",
"protein_id": "ENSP00000466557.1",
"transcript_support_level": 1,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1668,
"cds_start": 3856,
"cds_end": null,
"cds_length": 5007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587184.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "n.3429C>T",
"hgvs_p": null,
"transcript": "ENST00000588770.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000588770.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8683C>T",
"hgvs_p": "p.Arg2895Cys",
"transcript": "NM_001127717.4",
"protein_id": "NP_001121189.2",
"transcript_support_level": null,
"aa_start": 2895,
"aa_end": null,
"aa_length": 3277,
"cds_start": 8683,
"cds_end": null,
"cds_length": 9834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127717.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.5446C>T",
"hgvs_p": "p.Arg1816Cys",
"transcript": "ENST00000649721.1",
"protein_id": "ENSP00000497885.1",
"transcript_support_level": null,
"aa_start": 1816,
"aa_end": null,
"aa_length": 2198,
"cds_start": 5446,
"cds_end": null,
"cds_length": 6597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649721.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.3856C>T",
"hgvs_p": "p.Arg1286Cys",
"transcript": "NM_001127718.4",
"protein_id": "NP_001121190.2",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1668,
"cds_start": 3856,
"cds_end": null,
"cds_length": 5007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127718.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8878C>T",
"hgvs_p": "p.Arg2960Cys",
"transcript": "XM_011525978.3",
"protein_id": "XP_011524280.1",
"transcript_support_level": null,
"aa_start": 2960,
"aa_end": null,
"aa_length": 3342,
"cds_start": 8878,
"cds_end": null,
"cds_length": 10029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525978.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8869C>T",
"hgvs_p": "p.Arg2957Cys",
"transcript": "XM_011525979.3",
"protein_id": "XP_011524281.1",
"transcript_support_level": null,
"aa_start": 2957,
"aa_end": null,
"aa_length": 3339,
"cds_start": 8869,
"cds_end": null,
"cds_length": 10020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525979.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8860C>T",
"hgvs_p": "p.Arg2954Cys",
"transcript": "XM_011525980.3",
"protein_id": "XP_011524282.1",
"transcript_support_level": null,
"aa_start": 2954,
"aa_end": null,
"aa_length": 3336,
"cds_start": 8860,
"cds_end": null,
"cds_length": 10011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525980.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8746C>T",
"hgvs_p": "p.Arg2916Cys",
"transcript": "XM_011525981.3",
"protein_id": "XP_011524283.1",
"transcript_support_level": null,
"aa_start": 2916,
"aa_end": null,
"aa_length": 3298,
"cds_start": 8746,
"cds_end": null,
"cds_length": 9897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525981.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8737C>T",
"hgvs_p": "p.Arg2913Cys",
"transcript": "XM_047437503.1",
"protein_id": "XP_047293459.1",
"transcript_support_level": null,
"aa_start": 2913,
"aa_end": null,
"aa_length": 3295,
"cds_start": 8737,
"cds_end": null,
"cds_length": 9888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437503.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8719C>T",
"hgvs_p": "p.Arg2907Cys",
"transcript": "XM_047437504.1",
"protein_id": "XP_047293460.1",
"transcript_support_level": null,
"aa_start": 2907,
"aa_end": null,
"aa_length": 3289,
"cds_start": 8719,
"cds_end": null,
"cds_length": 9870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437504.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8878C>T",
"hgvs_p": "p.Arg2960Cys",
"transcript": "XM_047437505.1",
"protein_id": "XP_047293461.1",
"transcript_support_level": null,
"aa_start": 2960,
"aa_end": null,
"aa_length": 3259,
"cds_start": 8878,
"cds_end": null,
"cds_length": 9780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437505.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 65,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8581C>T",
"hgvs_p": "p.Arg2861Cys",
"transcript": "XM_011525982.3",
"protein_id": "XP_011524284.1",
"transcript_support_level": null,
"aa_start": 2861,
"aa_end": null,
"aa_length": 3243,
"cds_start": 8581,
"cds_end": null,
"cds_length": 9732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525982.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 65,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8554C>T",
"hgvs_p": "p.Arg2852Cys",
"transcript": "XM_047437506.1",
"protein_id": "XP_047293462.1",
"transcript_support_level": null,
"aa_start": 2852,
"aa_end": null,
"aa_length": 3234,
"cds_start": 8554,
"cds_end": null,
"cds_length": 9705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437506.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.6730C>T",
"hgvs_p": "p.Arg2244Cys",
"transcript": "XM_017025743.1",
"protein_id": "XP_016881232.1",
"transcript_support_level": null,
"aa_start": 2244,
"aa_end": null,
"aa_length": 2626,
"cds_start": 6730,
"cds_end": null,
"cds_length": 7881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025743.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.4420C>T",
"hgvs_p": "p.Arg1474Cys",
"transcript": "XM_017025744.2",
"protein_id": "XP_016881233.1",
"transcript_support_level": null,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1856,
"cds_start": 4420,
"cds_end": null,
"cds_length": 5571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025744.2"
}
],
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"dbsnp": "rs61752346",
"frequency_reference_population": 0.00246527,
"hom_count_reference_population": 10,
"allele_count_reference_population": 3979,
"gnomad_exomes_af": 0.00257638,
"gnomad_genomes_af": 0.00139874,
"gnomad_exomes_ac": 3766,
"gnomad_genomes_ac": 213,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007565289735794067,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.236,
"revel_prediction": "Benign",
"alphamissense_score": 0.0957,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.284,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_198129.4",
"gene_symbol": "LAMA3",
"hgnc_id": 6483,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.8851C>T",
"hgvs_p": "p.Arg2951Cys"
}
],
"clinvar_disease": "Junctional epidermolysis bullosa gravis of Herlitz,Laryngo-onycho-cutaneous syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1",
"phenotype_combined": "Junctional epidermolysis bullosa gravis of Herlitz|Laryngo-onycho-cutaneous syndrome|not provided|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}