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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: 1-151612258-T-TGGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151612258&ref=T&alt=TGGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151612258,
"ref": "T",
"alt": "TGGC",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000458013.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.69_71dupCGG",
"hgvs_p": "p.Gly24dup",
"transcript": "NM_001330723.2",
"protein_id": "NP_001317652.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 541,
"cds_start": 72,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": "ENST00000458013.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.69_71dupCGG",
"hgvs_p": "p.Gly24dup",
"transcript": "ENST00000458013.7",
"protein_id": "ENSP00000400333.2",
"transcript_support_level": 5,
"aa_start": 24,
"aa_end": null,
"aa_length": 541,
"cds_start": 72,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": "NM_001330723.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.69_71dupCGG",
"hgvs_p": "p.Gly24dup",
"transcript": "ENST00000368843.8",
"protein_id": "ENSP00000357836.3",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 528,
"cds_start": 72,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 7250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.69_71dupCGG",
"hgvs_p": null,
"transcript": "ENST00000368841.7",
"protein_id": "ENSP00000357834.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.69_71dupCGG",
"hgvs_p": "p.Gly24dup",
"transcript": "NM_030918.6",
"protein_id": "NP_112180.4",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 528,
"cds_start": 72,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 7218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.69_71dupCGG",
"hgvs_p": "p.Gly24dup",
"transcript": "NM_001437601.1",
"protein_id": "NP_001424530.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 440,
"cds_start": 72,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 6138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.69_71dupCGG",
"hgvs_p": "p.Gly24dup",
"transcript": "NM_001437603.1",
"protein_id": "NP_001424532.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 427,
"cds_start": 72,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 6915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.69_71dupCGG",
"hgvs_p": "p.Gly24dup",
"transcript": "NM_001437605.1",
"protein_id": "NP_001424534.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 420,
"cds_start": 72,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 6078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.69_71dupCGG",
"hgvs_p": "p.Gly24dup",
"transcript": "NM_001437606.1",
"protein_id": "NP_001424535.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 407,
"cds_start": 72,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 6855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.69_71dupCGG",
"hgvs_p": "p.Gly24dup",
"transcript": "ENST00000642376.1",
"protein_id": "ENSP00000496645.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 407,
"cds_start": 72,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 1437,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000250734",
"gene_hgnc_id": null,
"hgvs_c": "n.312_314dupGCC",
"hgvs_p": null,
"transcript": "ENST00000504583.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.69_71dupCGG",
"hgvs_p": null,
"transcript": "ENST00000642479.1",
"protein_id": "ENSP00000496775.1",
"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,
"cdna_end": null,
"cdna_length": 1347,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124904420",
"gene_hgnc_id": null,
"hgvs_c": "n.317_319dupGCC",
"hgvs_p": null,
"transcript": "XR_007066622.1",
"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,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.-170_-168dupCGG",
"hgvs_p": null,
"transcript": "NM_001437602.1",
"protein_id": "NP_001424531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
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"cds_length": 1317,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.-170_-168dupCGG",
"hgvs_p": null,
"transcript": "NM_001437604.1",
"protein_id": "NP_001424533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.-258_-256dupCGG",
"hgvs_p": null,
"transcript": "NM_001437607.1",
"protein_id": "NP_001424536.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cds_length": 1068,
"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": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.-359_-357dupCGG",
"hgvs_p": null,
"transcript": "NM_001437608.1",
"protein_id": "NP_001424537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.-79_-78insGGC",
"hgvs_p": null,
"transcript": "ENST00000642349.1",
"protein_id": "ENSP00000494331.1",
"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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"cdna_length": 2313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.-228_-227insGGC",
"hgvs_p": null,
"transcript": "ENST00000642582.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1057,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.-136_-135insGGC",
"hgvs_p": null,
"transcript": "ENST00000643179.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.-223_-222insGGC",
"hgvs_p": null,
"transcript": "ENST00000643814.1",
"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,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"dbsnp": "rs567208173",
"frequency_reference_population": 0.004210548,
"hom_count_reference_population": 16,
"allele_count_reference_population": 6065,
"gnomad_exomes_af": 0.00420539,
"gnomad_genomes_af": 0.00425439,
"gnomad_exomes_ac": 5420,
"gnomad_genomes_ac": 645,
"gnomad_exomes_homalt": 14,
"gnomad_genomes_homalt": 2,
"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": 1.068,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP3,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000458013.7",
"gene_symbol": "SNX27",
"hgnc_id": 20073,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.69_71dupCGG",
"hgvs_p": "p.Gly24dup"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000504583.2",
"gene_symbol": "ENSG00000250734",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.312_314dupGCC",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_007066622.1",
"gene_symbol": "LOC124904420",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.317_319dupGCC",
"hgvs_p": null
}
],
"clinvar_disease": "Severe myoclonic epilepsy in infancy,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Severe myoclonic epilepsy in infancy|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}