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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: 2-191678655-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=191678655&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 191678655,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001031716.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "c.41T>C",
"hgvs_p": "p.Ile14Thr",
"transcript": "NM_001031716.5",
"protein_id": "NP_001026886.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 204,
"cds_start": 41,
"cds_end": null,
"cds_length": 615,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": "ENST00000425611.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031716.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "c.41T>C",
"hgvs_p": "p.Ile14Thr",
"transcript": "ENST00000425611.9",
"protein_id": "ENSP00000403683.2",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 204,
"cds_start": 41,
"cds_end": null,
"cds_length": 615,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": "NM_001031716.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425611.9"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "c.-149-335T>C",
"hgvs_p": null,
"transcript": "ENST00000410026.7",
"protein_id": "ENSP00000387243.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410026.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "c.41T>C",
"hgvs_p": "p.Ile14Thr",
"transcript": "ENST00000970387.1",
"protein_id": "ENSP00000640446.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 202,
"cds_start": 41,
"cds_end": null,
"cds_length": 609,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 4192,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970387.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "c.41T>C",
"hgvs_p": "p.Ile14Thr",
"transcript": "XM_047445531.1",
"protein_id": "XP_047301487.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 134,
"cds_start": 41,
"cds_end": null,
"cds_length": 405,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445531.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "c.41T>C",
"hgvs_p": "p.Ile14Thr",
"transcript": "XM_047445532.1",
"protein_id": "XP_047301488.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 134,
"cds_start": 41,
"cds_end": null,
"cds_length": 405,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 1123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445532.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "c.-149-335T>C",
"hgvs_p": null,
"transcript": "NM_001254736.3",
"protein_id": "NP_001241665.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001254736.3"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "c.-150+259T>C",
"hgvs_p": null,
"transcript": "ENST00000409510.5",
"protein_id": "ENSP00000386605.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409510.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "n.41T>C",
"hgvs_p": null,
"transcript": "ENST00000307849.7",
"protein_id": "ENSP00000307968.3",
"transcript_support_level": 2,
"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": 3002,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000307849.7"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "n.41T>C",
"hgvs_p": null,
"transcript": "ENST00000451500.5",
"protein_id": "ENSP00000390901.1",
"transcript_support_level": 5,
"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": 2015,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000451500.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "n.41T>C",
"hgvs_p": null,
"transcript": "ENST00000674172.1",
"protein_id": "ENSP00000501340.1",
"transcript_support_level": null,
"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": 9440,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674172.1"
},
{
"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": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "n.41T>C",
"hgvs_p": null,
"transcript": "ENST00000674262.1",
"protein_id": "ENSP00000501487.1",
"transcript_support_level": null,
"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": 12359,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674262.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "n.41T>C",
"hgvs_p": null,
"transcript": "ENST00000674414.1",
"protein_id": "ENSP00000501415.1",
"transcript_support_level": null,
"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": 12192,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674414.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "n.520T>C",
"hgvs_p": null,
"transcript": "NR_045623.3",
"protein_id": null,
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 2373,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_045623.3"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "n.520T>C",
"hgvs_p": null,
"transcript": "XR_007080680.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1759,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007080680.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "n.-149-335T>C",
"hgvs_p": null,
"transcript": "ENST00000307834.9",
"protein_id": "ENSP00000310819.5",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000307834.9"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "n.107-335T>C",
"hgvs_p": null,
"transcript": "ENST00000462712.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000462712.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "n.175-335T>C",
"hgvs_p": null,
"transcript": "ENST00000491331.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "retained_intron",
"feature": "ENST00000491331.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "n.-149-335T>C",
"hgvs_p": null,
"transcript": "ENST00000674187.1",
"protein_id": "ENSP00000501440.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674187.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "n.-149-335T>C",
"hgvs_p": null,
"transcript": "ENST00000674360.1",
"protein_id": "ENSP00000501480.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674360.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "n.-149-335T>C",
"hgvs_p": null,
"transcript": "ENST00000674406.1",
"protein_id": "ENSP00000501496.1",
"transcript_support_level": null,
"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": 11895,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674406.1"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"hgvs_c": "n.107-335T>C",
"hgvs_p": null,
"transcript": "NR_045622.3",
"protein_id": null,
"transcript_support_level": null,
"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": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_045622.3"
}
],
"gene_symbol": "NABP1",
"gene_hgnc_id": 26232,
"dbsnp": "rs142308851",
"frequency_reference_population": 0.000017789138,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000177891,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.820974588394165,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.372,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9565,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.633,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001031716.5",
"gene_symbol": "NABP1",
"hgnc_id": 26232,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.41T>C",
"hgvs_p": "p.Ile14Thr"
}
],
"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
}