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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: 17-2379485-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2379485&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 2379485,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000268989.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.3121G>A",
"hgvs_p": "p.Val1041Ile",
"transcript": "NM_014853.3",
"protein_id": "NP_055668.2",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1051,
"cds_start": 3121,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 3309,
"cdna_end": null,
"cdna_length": 4878,
"mane_select": "ENST00000268989.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.3121G>A",
"hgvs_p": "p.Val1041Ile",
"transcript": "ENST00000268989.8",
"protein_id": "ENSP00000268989.3",
"transcript_support_level": 1,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1051,
"cds_start": 3121,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 3309,
"cdna_end": null,
"cdna_length": 4878,
"mane_select": "NM_014853.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2986G>A",
"hgvs_p": "p.Val996Ile",
"transcript": "ENST00000426855.6",
"protein_id": "ENSP00000415107.2",
"transcript_support_level": 1,
"aa_start": 996,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2986,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 3161,
"cdna_end": null,
"cdna_length": 4734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2986G>A",
"hgvs_p": "p.Val996Ile",
"transcript": "NM_001098509.2",
"protein_id": "NP_001091979.1",
"transcript_support_level": null,
"aa_start": 996,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2986,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 3174,
"cdna_end": null,
"cdna_length": 4743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"transcript": "ENST00000572925.1",
"protein_id": "ENSP00000461820.2",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 35,
"cds_start": 88,
"cds_end": null,
"cds_length": 108,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.3259G>A",
"hgvs_p": "p.Val1087Ile",
"transcript": "XM_011524102.4",
"protein_id": "XP_011522404.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1097,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 3447,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.3259G>A",
"hgvs_p": "p.Val1087Ile",
"transcript": "XM_011524103.4",
"protein_id": "XP_011522405.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1092,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 3447,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.3124G>A",
"hgvs_p": "p.Val1042Ile",
"transcript": "XM_017025474.3",
"protein_id": "XP_016880963.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1052,
"cds_start": 3124,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 3312,
"cdna_end": null,
"cdna_length": 4881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.3124G>A",
"hgvs_p": "p.Val1042Ile",
"transcript": "XM_017025475.3",
"protein_id": "XP_016880964.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3124,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3312,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.3076G>A",
"hgvs_p": "p.Val1026Ile",
"transcript": "XM_047437209.1",
"protein_id": "XP_047293165.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1036,
"cds_start": 3076,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 3264,
"cdna_end": null,
"cdna_length": 4833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2986G>A",
"hgvs_p": "p.Val996Ile",
"transcript": "XM_047437210.1",
"protein_id": "XP_047293166.1",
"transcript_support_level": null,
"aa_start": 996,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2986,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 3174,
"cdna_end": null,
"cdna_length": 3972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2941G>A",
"hgvs_p": "p.Val981Ile",
"transcript": "XM_047437212.1",
"protein_id": "XP_047293168.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 991,
"cds_start": 2941,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 3129,
"cdna_end": null,
"cdna_length": 4698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Val980Ile",
"transcript": "XM_047437213.1",
"protein_id": "XP_047293169.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 990,
"cds_start": 2938,
"cds_end": null,
"cds_length": 2973,
"cdna_start": 3126,
"cdna_end": null,
"cdna_length": 4695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.3279G>A",
"hgvs_p": "p.Ser1093Ser",
"transcript": "XM_011524101.4",
"protein_id": "XP_011522403.1",
"transcript_support_level": null,
"aa_start": 1093,
"aa_end": null,
"aa_length": 1103,
"cds_start": 3279,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 3467,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.3231G>A",
"hgvs_p": "p.Ser1077Ser",
"transcript": "XM_011524104.3",
"protein_id": "XP_011522406.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1087,
"cds_start": 3231,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 4907,
"cdna_end": null,
"cdna_length": 5705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.3144G>A",
"hgvs_p": "p.Ser1048Ser",
"transcript": "XM_011524105.4",
"protein_id": "XP_011522407.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1058,
"cds_start": 3144,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 3332,
"cdna_end": null,
"cdna_length": 4130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.3141G>A",
"hgvs_p": "p.Ser1047Ser",
"transcript": "XM_011524106.2",
"protein_id": "XP_011522408.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1057,
"cds_start": 3141,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 3329,
"cdna_end": null,
"cdna_length": 4127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.3096G>A",
"hgvs_p": "p.Ser1032Ser",
"transcript": "XM_011524107.4",
"protein_id": "XP_011522409.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1042,
"cds_start": 3096,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 3284,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.3006G>A",
"hgvs_p": "p.Ser1002Ser",
"transcript": "XM_011524108.2",
"protein_id": "XP_011522410.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1012,
"cds_start": 3006,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 3194,
"cdna_end": null,
"cdna_length": 3992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2961G>A",
"hgvs_p": "p.Ser987Ser",
"transcript": "XM_047437211.1",
"protein_id": "XP_047293167.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 997,
"cds_start": 2961,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 3149,
"cdna_end": null,
"cdna_length": 3947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2940G>A",
"hgvs_p": "p.Ser980Ser",
"transcript": "XM_047437214.1",
"protein_id": "XP_047293170.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 990,
"cds_start": 2940,
"cds_end": null,
"cds_length": 2973,
"cdna_start": 3253,
"cdna_end": null,
"cdna_length": 4051,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "n.885G>A",
"hgvs_p": null,
"transcript": "ENST00000572841.1",
"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": 2450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
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{
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{
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{
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],
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"splice_prediction_selected": "Benign",
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{
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"BS2"
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"verdict": "Benign",
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{
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"verdict": "Benign",
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],
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}