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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: 8-138151419-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=138151419&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 138151419,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000395297.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.3056C>T",
"hgvs_p": "p.Thr1019Ile",
"transcript": "NM_015912.4",
"protein_id": "NP_056996.2",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3056,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 3666,
"cdna_end": null,
"cdna_length": 7401,
"mane_select": "ENST00000395297.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.3056C>T",
"hgvs_p": "p.Thr1019Ile",
"transcript": "ENST00000395297.6",
"protein_id": "ENSP00000378710.1",
"transcript_support_level": 5,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3056,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 3666,
"cdna_end": null,
"cdna_length": 7401,
"mane_select": "NM_015912.4",
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "n.986C>T",
"hgvs_p": null,
"transcript": "ENST00000467365.2",
"protein_id": null,
"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": 1616,
"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": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "n.*3002C>T",
"hgvs_p": null,
"transcript": "ENST00000482951.6",
"protein_id": "ENSP00000429874.1",
"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": 4734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "n.*3002C>T",
"hgvs_p": null,
"transcript": "ENST00000482951.6",
"protein_id": "ENSP00000429874.1",
"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": 4734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.3056C>T",
"hgvs_p": "p.Thr1019Ile",
"transcript": "NM_001362965.2",
"protein_id": "NP_001349894.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3056,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 3179,
"cdna_end": null,
"cdna_length": 6914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.3056C>T",
"hgvs_p": "p.Thr1019Ile",
"transcript": "XM_011517056.3",
"protein_id": "XP_011515358.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3056,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3332,
"cdna_end": null,
"cdna_length": 7079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.3056C>T",
"hgvs_p": "p.Thr1019Ile",
"transcript": "XM_011517058.3",
"protein_id": "XP_011515360.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3056,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3187,
"cdna_end": null,
"cdna_length": 6934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.3056C>T",
"hgvs_p": "p.Thr1019Ile",
"transcript": "XM_011517059.2",
"protein_id": "XP_011515361.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3056,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3528,
"cdna_end": null,
"cdna_length": 7275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.3056C>T",
"hgvs_p": "p.Thr1019Ile",
"transcript": "XM_011517060.3",
"protein_id": "XP_011515362.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3056,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3314,
"cdna_end": null,
"cdna_length": 7061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.3056C>T",
"hgvs_p": "p.Thr1019Ile",
"transcript": "XM_011517061.3",
"protein_id": "XP_011515363.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3056,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3811,
"cdna_end": null,
"cdna_length": 7558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.3056C>T",
"hgvs_p": "p.Thr1019Ile",
"transcript": "XM_011517062.2",
"protein_id": "XP_011515364.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3056,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3666,
"cdna_end": null,
"cdna_length": 7413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.3056C>T",
"hgvs_p": "p.Thr1019Ile",
"transcript": "XM_011517063.3",
"protein_id": "XP_011515365.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3056,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3169,
"cdna_end": null,
"cdna_length": 6916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.3008C>T",
"hgvs_p": "p.Thr1003Ile",
"transcript": "XM_011517065.2",
"protein_id": "XP_011515367.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1394,
"cds_start": 3008,
"cds_end": null,
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"cdna_start": 3291,
"cdna_end": null,
"cdna_length": 7038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.2999C>T",
"hgvs_p": "p.Thr1000Ile",
"transcript": "XM_017013471.2",
"protein_id": "XP_016868960.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1391,
"cds_start": 2999,
"cds_end": null,
"cds_length": 4176,
"cdna_start": 3275,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.3056C>T",
"hgvs_p": "p.Thr1019Ile",
"transcript": "XM_047421813.1",
"protein_id": "XP_047277769.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1317,
"cds_start": 3056,
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"cdna_start": 3332,
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"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.2690C>T",
"hgvs_p": "p.Thr897Ile",
"transcript": "XM_011517069.3",
"protein_id": "XP_011515371.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1288,
"cds_start": 2690,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 3201,
"cdna_end": null,
"cdna_length": 6948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.3056C>T",
"hgvs_p": "p.Thr1019Ile",
"transcript": "XM_011517070.3",
"protein_id": "XP_011515372.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3056,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 3332,
"cdna_end": null,
"cdna_length": 4025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.3056C>T",
"hgvs_p": "p.Thr1019Ile",
"transcript": "XM_047421814.1",
"protein_id": "XP_047277770.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
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"cds_start": 3056,
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"cdna_start": 3332,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.2453C>T",
"hgvs_p": "p.Thr818Ile",
"transcript": "XM_011517072.3",
"protein_id": "XP_011515374.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 1209,
"cds_start": 2453,
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"cds_length": 3630,
"cdna_start": 2472,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.2357C>T",
"hgvs_p": "p.Thr786Ile",
"transcript": "XM_011517073.3",
"protein_id": "XP_011515375.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 1177,
"cds_start": 2357,
"cds_end": null,
"cds_length": 3534,
"cdna_start": 2476,
"cdna_end": null,
"cdna_length": 6223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "c.2309C>T",
"hgvs_p": "p.Thr770Ile",
"transcript": "XM_011517074.2",
"protein_id": "XP_011515376.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2309,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2342,
"cdna_end": null,
"cdna_length": 6089,
"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": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"hgvs_c": "n.3056C>T",
"hgvs_p": null,
"transcript": "ENST00000276737.10",
"protein_id": "ENSP00000276737.6",
"transcript_support_level": 5,
"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": 4288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FAM135B",
"gene_hgnc_id": 28029,
"dbsnp": "rs376876532",
"frequency_reference_population": 0.000003717569,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342051,
"gnomad_genomes_af": 0.00000657082,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09088402986526489,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.063,
"revel_prediction": "Benign",
"alphamissense_score": 0.1257,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.563,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000395297.6",
"gene_symbol": "FAM135B",
"hgnc_id": 28029,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3056C>T",
"hgvs_p": "p.Thr1019Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}