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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: 3-78598917-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=78598917&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 78598917,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002941.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4952G>A",
"hgvs_p": "p.Ser1651Asn",
"transcript": "NM_002941.4",
"protein_id": "NP_002932.1",
"transcript_support_level": null,
"aa_start": 1651,
"aa_end": null,
"aa_length": 1651,
"cds_start": 4952,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 5249,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": "ENST00000464233.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4952G>A",
"hgvs_p": "p.Ser1651Asn",
"transcript": "ENST00000464233.6",
"protein_id": "ENSP00000420321.1",
"transcript_support_level": 5,
"aa_start": 1651,
"aa_end": null,
"aa_length": 1651,
"cds_start": 4952,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 5249,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": "NM_002941.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4817G>A",
"hgvs_p": "p.Ser1606Asn",
"transcript": "ENST00000495273.5",
"protein_id": "ENSP00000420637.1",
"transcript_support_level": 1,
"aa_start": 1606,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4817,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 5371,
"cdna_end": null,
"cdna_length": 5600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4652G>A",
"hgvs_p": "p.Ser1551Asn",
"transcript": "ENST00000467549.5",
"protein_id": "ENSP00000417992.1",
"transcript_support_level": 1,
"aa_start": 1551,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4652,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 4735,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4817G>A",
"hgvs_p": "p.Ser1606Asn",
"transcript": "NM_133631.4",
"protein_id": "NP_598334.2",
"transcript_support_level": null,
"aa_start": 1606,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4817,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 5815,
"cdna_end": null,
"cdna_length": 7493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4652G>A",
"hgvs_p": "p.Ser1551Asn",
"transcript": "NM_001145845.2",
"protein_id": "NP_001139317.1",
"transcript_support_level": null,
"aa_start": 1551,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4652,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 5650,
"cdna_end": null,
"cdna_length": 7328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4592G>A",
"hgvs_p": "p.Ser1531Asn",
"transcript": "ENST00000436010.6",
"protein_id": "ENSP00000406043.3",
"transcript_support_level": 5,
"aa_start": 1531,
"aa_end": null,
"aa_length": 1531,
"cds_start": 4592,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 5830,
"cdna_end": null,
"cdna_length": 7501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4574G>A",
"hgvs_p": "p.Ser1525Asn",
"transcript": "ENST00000618846.4",
"protein_id": "ENSP00000482448.1",
"transcript_support_level": 5,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1525,
"cds_start": 4574,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 5812,
"cdna_end": null,
"cdna_length": 7483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4961G>A",
"hgvs_p": "p.Ser1654Asn",
"transcript": "XM_011533976.1",
"protein_id": "XP_011532278.1",
"transcript_support_level": null,
"aa_start": 1654,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4961,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 5258,
"cdna_end": null,
"cdna_length": 6936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4961G>A",
"hgvs_p": "p.Ser1654Asn",
"transcript": "XM_011533977.3",
"protein_id": "XP_011532279.1",
"transcript_support_level": null,
"aa_start": 1654,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4961,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 5549,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4934G>A",
"hgvs_p": "p.Ser1645Asn",
"transcript": "XM_011533978.1",
"protein_id": "XP_011532280.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1645,
"cds_start": 4934,
"cds_end": null,
"cds_length": 4938,
"cdna_start": 5231,
"cdna_end": null,
"cdna_length": 6909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4925G>A",
"hgvs_p": "p.Ser1642Asn",
"transcript": "XM_047448661.1",
"protein_id": "XP_047304617.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1642,
"cds_start": 4925,
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"cds_length": 4929,
"cdna_start": 5222,
"cdna_end": null,
"cdna_length": 6900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4877G>A",
"hgvs_p": "p.Ser1626Asn",
"transcript": "XM_017006982.2",
"protein_id": "XP_016862471.1",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 1626,
"cds_start": 4877,
"cds_end": null,
"cds_length": 4881,
"cdna_start": 5174,
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"cdna_length": 6852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4844G>A",
"hgvs_p": "p.Ser1615Asn",
"transcript": "XM_006713277.4",
"protein_id": "XP_006713340.1",
"transcript_support_level": null,
"aa_start": 1615,
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"cds_start": 4844,
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"cdna_start": 5842,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4838G>A",
"hgvs_p": "p.Ser1613Asn",
"transcript": "XM_047448662.1",
"protein_id": "XP_047304618.1",
"transcript_support_level": null,
"aa_start": 1613,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4838,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4856,
"cdna_end": null,
"cdna_length": 6534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4835G>A",
"hgvs_p": "p.Ser1612Asn",
"transcript": "XM_017006983.3",
"protein_id": "XP_016862472.1",
"transcript_support_level": null,
"aa_start": 1612,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4808G>A",
"hgvs_p": "p.Ser1603Asn",
"transcript": "XM_047448663.1",
"protein_id": "XP_047304619.1",
"transcript_support_level": null,
"aa_start": 1603,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4808,
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"cdna_start": 5806,
"cdna_end": null,
"cdna_length": 7484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4796G>A",
"hgvs_p": "p.Ser1599Asn",
"transcript": "XM_011533979.1",
"protein_id": "XP_011532281.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1599,
"cds_start": 4796,
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"cdna_start": 5093,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4787G>A",
"hgvs_p": "p.Ser1596Asn",
"transcript": "XM_017006984.1",
"protein_id": "XP_016862473.1",
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"aa_end": null,
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"feature": null
},
{
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"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4769G>A",
"hgvs_p": "p.Ser1590Asn",
"transcript": "XM_011533980.1",
"protein_id": "XP_011532282.1",
"transcript_support_level": null,
"aa_start": 1590,
"aa_end": null,
"aa_length": 1590,
"cds_start": 4769,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
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"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4760G>A",
"hgvs_p": "p.Ser1587Asn",
"transcript": "XM_047448664.1",
"protein_id": "XP_047304620.1",
"transcript_support_level": null,
"aa_start": 1587,
"aa_end": null,
"aa_length": 1587,
"cds_start": 4760,
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"cds_length": 4764,
"cdna_start": 5057,
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"cdna_length": 6735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4643G>A",
"hgvs_p": "p.Ser1548Asn",
"transcript": "XM_047448665.1",
"protein_id": "XP_047304621.1",
"transcript_support_level": null,
"aa_start": 1548,
"aa_end": null,
"aa_length": 1548,
"cds_start": 4643,
"cds_end": null,
"cds_length": 4647,
"cdna_start": 5641,
"cdna_end": null,
"cdna_length": 7319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4604G>A",
"hgvs_p": "p.Ser1535Asn",
"transcript": "XM_017006985.2",
"protein_id": "XP_016862474.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1535,
"cds_start": 4604,
"cds_end": null,
"cds_length": 4608,
"cdna_start": 4839,
"cdna_end": null,
"cdna_length": 6517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"dbsnp": null,
"frequency_reference_population": 7.030836e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.03084e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28512638807296753,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.17,
"revel_prediction": "Benign",
"alphamissense_score": 0.1978,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.752,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002941.4",
"gene_symbol": "ROBO1",
"hgnc_id": 10249,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4952G>A",
"hgvs_p": "p.Ser1651Asn"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}