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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: 20-50894289-G-GTGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=50894289&ref=G&alt=GTGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 50894289,
"ref": "G",
"alt": "GTGC",
"effect": "conservative_inframe_insertion",
"transcript": "ENST00000621696.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "ST",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.422_424dupGCA",
"hgvs_p": "p.Ser141dup",
"transcript": "NM_001282531.3",
"protein_id": "NP_001269460.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 1102,
"cds_start": 424,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 6672,
"mane_select": "ENST00000621696.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "ST",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.422_424dupGCA",
"hgvs_p": "p.Ser141dup",
"transcript": "ENST00000621696.5",
"protein_id": "ENSP00000483881.1",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 1102,
"cds_start": 424,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 6672,
"mane_select": "NM_001282531.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "ST",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.422_424dupGCA",
"hgvs_p": "p.Ser141dup",
"transcript": "ENST00000349014.8",
"protein_id": "ENSP00000342905.3",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 1102,
"cds_start": 424,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 4662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "ST",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.422_424dupGCA",
"hgvs_p": "p.Ser141dup",
"transcript": "ENST00000371602.9",
"protein_id": "ENSP00000360662.2",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 1102,
"cds_start": 424,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 7360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "ST",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.422_424dupGCA",
"hgvs_p": "p.Ser141dup",
"transcript": "ENST00000396029.8",
"protein_id": "ENSP00000379346.3",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 1102,
"cds_start": 424,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 6396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "ST",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.638_640dupGCA",
"hgvs_p": "p.Ser213dup",
"transcript": "NM_001439000.1",
"protein_id": "NP_001425929.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1174,
"cds_start": 640,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 6631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "ST",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.638_640dupGCA",
"hgvs_p": "p.Ser213dup",
"transcript": "ENST00000673732.1",
"protein_id": "ENSP00000501294.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1174,
"cds_start": 640,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 6631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "ST",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.422_424dupGCA",
"hgvs_p": "p.Ser141dup",
"transcript": "NM_001282532.2",
"protein_id": "NP_001269461.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 1102,
"cds_start": 424,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 6093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "ST",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.422_424dupGCA",
"hgvs_p": "p.Ser141dup",
"transcript": "NM_001347511.2",
"protein_id": "NP_001334440.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 1102,
"cds_start": 424,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 6497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "ST",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.422_424dupGCA",
"hgvs_p": "p.Ser141dup",
"transcript": "NM_015339.5",
"protein_id": "NP_056154.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 1102,
"cds_start": 424,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 6588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "ST",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.422_424dupGCA",
"hgvs_p": "p.Ser141dup",
"transcript": "NM_181442.4",
"protein_id": "NP_852107.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 1102,
"cds_start": 424,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 6413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "ST",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.422_424dupGCA",
"hgvs_p": "p.Ser141dup",
"transcript": "ENST00000396032.8",
"protein_id": "ENSP00000379349.2",
"transcript_support_level": 2,
"aa_start": 142,
"aa_end": null,
"aa_length": 1102,
"cds_start": 424,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 4979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "ST",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.638_640dupGCA",
"hgvs_p": "p.Ser213dup",
"transcript": "XM_011528747.3",
"protein_id": "XP_011527049.2",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1174,
"cds_start": 640,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 7531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "ST",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.449_451dupGCA",
"hgvs_p": "p.Ser150dup",
"transcript": "XM_011528748.3",
"protein_id": "XP_011527050.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1111,
"cds_start": 451,
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"cds_length": 3336,
"cdna_start": 1025,
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"cdna_length": 6397,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "ST",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.422_424dupGCA",
"hgvs_p": "p.Ser141dup",
"transcript": "XM_047440075.1",
"protein_id": "XP_047296031.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 1102,
"cds_start": 424,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 2116,
"cdna_end": null,
"cdna_length": 7488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "ST",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.422_424dupGCA",
"hgvs_p": "p.Ser141dup",
"transcript": "XM_047440076.1",
"protein_id": "XP_047296032.1",
"transcript_support_level": null,
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"cdna_start": 2200,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "ST",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.422_424dupGCA",
"hgvs_p": "p.Ser141dup",
"transcript": "XM_047440077.1",
"protein_id": "XP_047296033.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 1102,
"cds_start": 424,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 6715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "n.399_401dupGCA",
"hgvs_p": null,
"transcript": "ENST00000642364.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.-263_-261dupGCA",
"hgvs_p": null,
"transcript": "NM_001439001.1",
"protein_id": "NP_001425930.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.-263_-261dupGCA",
"hgvs_p": null,
"transcript": "ENST00000645081.1",
"protein_id": "ENSP00000495540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.202-4335_202-4333dupGCA",
"hgvs_p": null,
"transcript": "ENST00000644386.1",
"protein_id": "ENSP00000493755.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": -4,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
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"cdna_length": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"dbsnp": "rs577498739",
"frequency_reference_population": 0.0038782074,
"hom_count_reference_population": 28,
"allele_count_reference_population": 6259,
"gnomad_exomes_af": 0.00402169,
"gnomad_genomes_af": 0.00250141,
"gnomad_exomes_ac": 5878,
"gnomad_genomes_ac": 381,
"gnomad_exomes_homalt": 27,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.659,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -15,
"acmg_classification": "Benign",
"acmg_criteria": "PM4_Supporting,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 16,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000621696.5",
"gene_symbol": "ADNP",
"hgnc_id": 15766,
"effects": [
"conservative_inframe_insertion"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.422_424dupGCA",
"hgvs_p": "p.Ser141dup"
}
],
"clinvar_disease": "ADNP-related disorder,ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:3",
"phenotype_combined": "not specified|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder|not provided|Inborn genetic diseases|ADNP-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}