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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: 11-68933865-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68933865&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68933865,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000255078.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Gly497Arg",
"transcript": "NM_002180.3",
"protein_id": "NP_002171.2",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 993,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 3914,
"mane_select": "ENST00000255078.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Gly497Arg",
"transcript": "ENST00000255078.8",
"protein_id": "ENSP00000255078.4",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 993,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 3914,
"mane_select": "NM_002180.3",
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.184G>A",
"hgvs_p": null,
"transcript": "ENST00000541229.5",
"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": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Gly497Arg",
"transcript": "ENST00000675615.1",
"protein_id": "ENSP00000502413.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 875,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 2914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Gly497Arg",
"transcript": "XM_047426881.1",
"protein_id": "XP_047282837.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 956,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "c.478G>A",
"hgvs_p": "p.Gly160Arg",
"transcript": "XM_017017670.3",
"protein_id": "XP_016873159.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 656,
"cds_start": 478,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 2743,
"cdna_end": null,
"cdna_length": 5106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Gly121Arg",
"transcript": "XM_005273975.4",
"protein_id": "XP_005274032.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 617,
"cds_start": 361,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 3870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Gly86Arg",
"transcript": "XM_011544994.2",
"protein_id": "XP_011543296.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 582,
"cds_start": 256,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 2960,
"cdna_end": null,
"cdna_length": 5323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Gly497Arg",
"transcript": "XM_017017671.3",
"protein_id": "XP_016873160.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 546,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 1780,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.606G>A",
"hgvs_p": null,
"transcript": "ENST00000537458.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 813,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.1248G>A",
"hgvs_p": null,
"transcript": "ENST00000539064.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2346,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.606G>A",
"hgvs_p": null,
"transcript": "ENST00000543739.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2846,
"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": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.*206G>A",
"hgvs_p": null,
"transcript": "ENST00000674955.1",
"protein_id": "ENSP00000502463.1",
"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": 2512,
"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": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.*715G>A",
"hgvs_p": null,
"transcript": "ENST00000675118.1",
"protein_id": "ENSP00000501570.1",
"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": 3340,
"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": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.864G>A",
"hgvs_p": null,
"transcript": "ENST00000675648.1",
"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": 3414,
"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": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.*1930G>A",
"hgvs_p": null,
"transcript": "ENST00000676173.2",
"protein_id": "ENSP00000520445.1",
"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": 4597,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.*812G>A",
"hgvs_p": null,
"transcript": "ENST00000676228.1",
"protein_id": "ENSP00000502375.1",
"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": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.*206G>A",
"hgvs_p": null,
"transcript": "ENST00000674955.1",
"protein_id": "ENSP00000502463.1",
"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": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.*715G>A",
"hgvs_p": null,
"transcript": "ENST00000675118.1",
"protein_id": "ENSP00000501570.1",
"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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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.*1930G>A",
"hgvs_p": null,
"transcript": "ENST00000676173.2",
"protein_id": "ENSP00000520445.1",
"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,
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"cdna_length": 4597,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.*812G>A",
"hgvs_p": null,
"transcript": "ENST00000676228.1",
"protein_id": "ENSP00000502375.1",
"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": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.183+384G>A",
"hgvs_p": null,
"transcript": "ENST00000675205.1",
"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": 278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.113-599G>A",
"hgvs_p": null,
"transcript": "ENST00000675997.1",
"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": 207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"dbsnp": "rs764111837",
"frequency_reference_population": 0.00001058458,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000962914,
"gnomad_genomes_af": 0.0000197122,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.86417555809021,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.677,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5563,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.041,
"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,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000255078.8",
"gene_symbol": "IGHMBP2",
"hgnc_id": 5542,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Gly497Arg"
}
],
"clinvar_disease": "Autosomal recessive distal spinal muscular atrophy 1,Charcot-Marie-Tooth disease axonal type 2S,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Autosomal recessive distal spinal muscular atrophy 1;Charcot-Marie-Tooth disease axonal type 2S|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}