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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: 2-188594004-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=188594004&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 188594004,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001375948.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.908G>C",
"hgvs_p": "p.Arg303Thr",
"transcript": "NM_016315.4",
"protein_id": "NP_057399.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 304,
"cds_start": 908,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": "ENST00000409830.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016315.4"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.908G>C",
"hgvs_p": "p.Arg303Thr",
"transcript": "ENST00000409830.6",
"protein_id": "ENSP00000386732.1",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 304,
"cds_start": 908,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": "NM_016315.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409830.6"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.908G>C",
"hgvs_p": "p.Arg303Thr",
"transcript": "ENST00000359135.7",
"protein_id": "ENSP00000352047.3",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 304,
"cds_start": 908,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359135.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.*5929G>C",
"hgvs_p": null,
"transcript": "ENST00000451191.5",
"protein_id": "ENSP00000407131.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": null,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451191.5"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.1157G>C",
"hgvs_p": "p.Arg386Thr",
"transcript": "ENST00000963749.1",
"protein_id": "ENSP00000633808.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 387,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963749.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Arg378Thr",
"transcript": "NM_001375948.1",
"protein_id": "NP_001362877.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 379,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 3519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375948.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Arg378Thr",
"transcript": "NM_001375949.1",
"protein_id": "NP_001362878.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 379,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1683,
"cdna_end": null,
"cdna_length": 3605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375949.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Arg378Thr",
"transcript": "ENST00000433052.2",
"protein_id": "ENSP00000391712.2",
"transcript_support_level": 2,
"aa_start": 378,
"aa_end": null,
"aa_length": 379,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433052.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Arg378Thr",
"transcript": "ENST00000908908.1",
"protein_id": "ENSP00000578967.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 379,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908908.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Arg378Thr",
"transcript": "ENST00000908914.1",
"protein_id": "ENSP00000578973.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 379,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908914.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Arg378Thr",
"transcript": "ENST00000908921.1",
"protein_id": "ENSP00000578980.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 379,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 2079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908921.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Arg378Thr",
"transcript": "ENST00000919994.1",
"protein_id": "ENSP00000590053.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 379,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1500,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919994.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Arg378Thr",
"transcript": "ENST00000919995.1",
"protein_id": "ENSP00000590054.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 379,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919995.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Arg378Thr",
"transcript": "ENST00000920002.1",
"protein_id": "ENSP00000590061.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 379,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1684,
"cdna_end": null,
"cdna_length": 3622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920002.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Arg378Thr",
"transcript": "ENST00000920020.1",
"protein_id": "ENSP00000590079.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 379,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 2290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920020.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Arg378Thr",
"transcript": "ENST00000963747.1",
"protein_id": "ENSP00000633806.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 379,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963747.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Arg378Thr",
"transcript": "ENST00000963750.1",
"protein_id": "ENSP00000633809.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 379,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 2871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963750.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Arg378Thr",
"transcript": "ENST00000963753.1",
"protein_id": "ENSP00000633812.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 379,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963753.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Arg378Thr",
"transcript": "ENST00000963756.1",
"protein_id": "ENSP00000633815.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 379,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 3673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963756.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Arg378Thr",
"transcript": "ENST00000963758.1",
"protein_id": "ENSP00000633817.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 379,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963758.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Arg378Thr",
"transcript": "ENST00000963763.1",
"protein_id": "ENSP00000633822.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 379,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 2877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963763.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Arg332Thr",
"transcript": "ENST00000919986.1",
"protein_id": "ENSP00000590045.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": 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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{
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],
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}
],
"gene_symbol": "GULP1",
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"dbsnp": "rs181641969",
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"hom_count_reference_population": 0,
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"gnomad_genomes_ac": 31,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03696674108505249,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.1677,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.537,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001375948.1",
"gene_symbol": "GULP1",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Arg378Thr"
}
],
"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
}