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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: 1-23693851-AT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23693851&ref=AT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 23693851,
"ref": "AT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_000975.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.204delT",
"hgvs_p": "p.Ile68fs",
"transcript": "NM_000975.5",
"protein_id": "NP_000966.2",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 178,
"cds_start": 204,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000643754.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000975.5"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.204delT",
"hgvs_p": "p.Ile68fs",
"transcript": "ENST00000643754.2",
"protein_id": "ENSP00000496250.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 178,
"cds_start": 204,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000975.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643754.2"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.201delT",
"hgvs_p": "p.Ile67fs",
"transcript": "ENST00000374550.8",
"protein_id": "ENSP00000363676.4",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 177,
"cds_start": 201,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374550.8"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.171delT",
"hgvs_p": "p.Ile57fs",
"transcript": "ENST00000458455.2",
"protein_id": "ENSP00000398888.2",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 167,
"cds_start": 171,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458455.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "n.198delT",
"hgvs_p": null,
"transcript": "ENST00000482370.2",
"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": "retained_intron",
"feature": "ENST00000482370.2"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.225delT",
"hgvs_p": "p.Ile75fs",
"transcript": "ENST00000933799.1",
"protein_id": "ENSP00000603858.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 185,
"cds_start": 225,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933799.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.204delT",
"hgvs_p": "p.Ile68fs",
"transcript": "ENST00000970070.1",
"protein_id": "ENSP00000640129.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 178,
"cds_start": 204,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970070.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.201delT",
"hgvs_p": "p.Ile67fs",
"transcript": "NM_001199802.1",
"protein_id": "NP_001186731.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 177,
"cds_start": 201,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199802.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.204delT",
"hgvs_p": "p.Ile68fs",
"transcript": "ENST00000933792.1",
"protein_id": "ENSP00000603851.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 177,
"cds_start": 204,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933792.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.204delT",
"hgvs_p": "p.Ile68fs",
"transcript": "ENST00000970068.1",
"protein_id": "ENSP00000640127.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 177,
"cds_start": 204,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970068.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.201delT",
"hgvs_p": "p.Ile67fs",
"transcript": "ENST00000970069.1",
"protein_id": "ENSP00000640128.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 176,
"cds_start": 201,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970069.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.204delT",
"hgvs_p": "p.Ile68fs",
"transcript": "ENST00000933788.1",
"protein_id": "ENSP00000603847.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 175,
"cds_start": 204,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933788.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.192delT",
"hgvs_p": "p.Ile64fs",
"transcript": "ENST00000933794.1",
"protein_id": "ENSP00000603853.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 174,
"cds_start": 192,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933794.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.204delT",
"hgvs_p": "p.Ile68fs",
"transcript": "ENST00000933795.1",
"protein_id": "ENSP00000603854.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 173,
"cds_start": 204,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933795.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.201delT",
"hgvs_p": "p.Ile67fs",
"transcript": "ENST00000933801.1",
"protein_id": "ENSP00000603860.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 155,
"cds_start": 201,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933801.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.204delT",
"hgvs_p": "p.Ile68fs",
"transcript": "ENST00000933796.1",
"protein_id": "ENSP00000603855.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 141,
"cds_start": 204,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933796.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.204delT",
"hgvs_p": "p.Ile68fs",
"transcript": "ENST00000895876.1",
"protein_id": "ENSP00000565935.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 134,
"cds_start": 204,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895876.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.204delT",
"hgvs_p": "p.Ile68fs",
"transcript": "ENST00000933800.1",
"protein_id": "ENSP00000603859.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 134,
"cds_start": 204,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933800.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.201delT",
"hgvs_p": "p.Ile67fs",
"transcript": "ENST00000933790.1",
"protein_id": "ENSP00000603849.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 133,
"cds_start": 201,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933790.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.115-31delT",
"hgvs_p": null,
"transcript": "ENST00000933789.1",
"protein_id": "ENSP00000603848.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": null,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933789.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.115-807delT",
"hgvs_p": null,
"transcript": "ENST00000933791.1",
"protein_id": "ENSP00000603850.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933791.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.112-807delT",
"hgvs_p": null,
"transcript": "ENST00000933797.1",
"protein_id": "ENSP00000603856.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": null,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933797.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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{
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{
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],
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{
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],
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{
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"3_prime_UTR_variant"
],
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000467075.2"
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],
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"dbsnp": "rs587777120",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.876,
"phylop100way_prediction": "Pathogenic",
"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,
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"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_000975.5",
"gene_symbol": "RPL11",
"hgnc_id": 10301,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.204delT",
"hgvs_p": "p.Ile68fs"
}
],
"clinvar_disease": "Diamond-Blackfan anemia 7",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Diamond-Blackfan anemia 7",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}