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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: 10-42790468-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=42790468&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 42790468,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014753.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "NM_014753.4",
"protein_id": "NP_055568.3",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1282,
"cds_start": 593,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374518.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014753.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000374518.6",
"protein_id": "ENSP00000363642.4",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 1282,
"cds_start": 593,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014753.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374518.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000877424.1",
"protein_id": "ENSP00000547483.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1303,
"cds_start": 593,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877424.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000966891.1",
"protein_id": "ENSP00000636950.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1291,
"cds_start": 593,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966891.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000923315.1",
"protein_id": "ENSP00000593374.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1284,
"cds_start": 593,
"cds_end": null,
"cds_length": 3855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923315.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000877422.1",
"protein_id": "ENSP00000547481.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1282,
"cds_start": 593,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877422.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000877423.1",
"protein_id": "ENSP00000547482.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1282,
"cds_start": 593,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877423.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000923311.1",
"protein_id": "ENSP00000593371.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1282,
"cds_start": 593,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923311.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000877426.1",
"protein_id": "ENSP00000547485.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1280,
"cds_start": 593,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877426.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000923316.1",
"protein_id": "ENSP00000593375.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1280,
"cds_start": 593,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923316.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000923314.1",
"protein_id": "ENSP00000593373.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1268,
"cds_start": 593,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923314.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000923318.1",
"protein_id": "ENSP00000593377.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1268,
"cds_start": 593,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923318.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000923320.1",
"protein_id": "ENSP00000593379.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1268,
"cds_start": 593,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923320.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000923319.1",
"protein_id": "ENSP00000593378.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1233,
"cds_start": 593,
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"cds_length": 3702,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923319.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000923317.1",
"protein_id": "ENSP00000593376.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1230,
"cds_start": 593,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923317.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "XM_005271846.4",
"protein_id": "XP_005271903.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1282,
"cds_start": 593,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271846.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "XM_011540402.3",
"protein_id": "XP_011538704.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1282,
"cds_start": 593,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540402.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "XM_047426040.1",
"protein_id": "XP_047281996.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1219,
"cds_start": 593,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426040.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "XM_047426041.1",
"protein_id": "XP_047281997.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1063,
"cds_start": 593,
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"cds_length": 3192,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426041.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "XM_047426042.1",
"protein_id": "XP_047281998.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 886,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426042.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "XM_047426043.1",
"protein_id": "XP_047281999.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 879,
"cds_start": 593,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426043.1"
},
{
"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": 22,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "c.448-1159C>T",
"hgvs_p": null,
"transcript": "ENST00000877425.1",
"protein_id": "ENSP00000547484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1219,
"cds_start": null,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877425.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"hgvs_c": "n.830C>T",
"hgvs_p": null,
"transcript": "XR_007062019.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007062019.1"
}
],
"gene_symbol": "BMS1",
"gene_hgnc_id": 23505,
"dbsnp": "rs369823721",
"frequency_reference_population": 0.000019208295,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000136831,
"gnomad_genomes_af": 0.00007226,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24806150794029236,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.095,
"revel_prediction": "Benign",
"alphamissense_score": 0.2659,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.901,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_014753.4",
"gene_symbol": "BMS1",
"hgnc_id": 23505,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile"
}
],
"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
}